Rede de Comunicação da Síndrome Kabuki

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"A small and active ring x chromosome in a female with features of Kabuki syndrome " - Am J Med Genet AOct 16 2008 Author: Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML
"Oral features in Kabuki make-up Syndrome" - Eur J Paediatr Dent. Sep;9(3):149-52 2008 Author: Spano G, Campus G, Bortone A, Lai V, Lugliè PF
"Double Aortic Arch: An Unreported Anomaly with Kabuki Syndrome " - Pediatr Cardiol. Aug 7 2008 Author: Moral S, Zuccarino F, Loma-Osorio P
"New fundus findings in a case of Kabuki syndrome " - Eye. Jul 25 2008 Author: Chuah JL, Chuah JK, Brown R
"Kabuki Syndrome with additional dental findings: a case report " - J Dent Child (Chic).May-Aug;75(2):185-7 2008 Author: Cogulu D, Oncag O, Celen E, Ozkinay F
"Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan " - Med Genet. Jul;45(7):479-80 2008 Author: Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N
"No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome" - Am J Med Genet A Jul 15;146A(14):1893-6 2008 Author: : Kuniba H, Sato D, Yoshiura K, Ohashi H, Kurosawa K, Miyake N, Kondoh T, Matsumoto T, Nagai T, Okamoto N, Fukushima Y, Naritomi K, Matsumoto N, Niikawa N
"Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome " - Clin Dysmorphol. Jul;17(3):199-202 2008 Author: Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W
"Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration " - BMC Med Genet. Apr 11;9:27 2008 Author: Cuscó I, del Campo M, Vilardell M, González E, Gener B, Galán E, Toledo L, Pérez-Jurado LA
"Dental findings in Kabuki make-up syndrome: a case report" - Spec Care Dentist. Mar-Apr;28(2):53-7 2008 Author: Rocha CT, Peixoto IT, Fernandes PM, Torres CP, de Queiroz AM
"Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement" - Congenit Heart Dis. Nov;2(6):424-8 2007 Author: Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M
"Hardikar syndrome: Long term outcome of a rare genetic disorder" - Am J Med Genet A. Mar 17 2008 Author: Nydegger A, Van Dyck M, Fisher RA, Jaeken J, Hardikar W
"A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome" - Clin Genet. 7 May;73(5):502-3 2008 Author: Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y
"A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage" - Pediatr Cardiol. Feb 19 2008 Author: Shahdadpuri R, Lynch SA, Murchan H, McMahon CJ
"Predictive factors for success after transnasal endoscopic treatment of choanal atresia" - Arch Otolaryngol Head Neck Surg. Jan;134(1):57-61 2008 Author: Teissier N, Kaguelidou F, Couloigner V, François M, Van Den Abbeele T
"Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation" - Fertil Steril. Oct 20 2007 Author: Chen CP, Lin SP, Tsai FJ, Chern SR, Wang W
"Case report: autistic disorder in Kabuki syndrome" - J Autism Dev Disord. 7 Jan;38(1):198-201 2008 Author: Akin Sari B, Karaer K, Bodur S, Soysal AS
"Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia" - Int Ophthalmol. Apr;28(2):131-4 2008 Author: Chaudhry IA, Shamsi FA, Alkuraya HS, Al-Sharif A
"Anesthesia for a child with Kabuki Syndrome" - Paediatr Anaesth. 7 Sep;17(9):900-1 2007 Author: Johnson G, Mayhew JF
"Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature" - J Pediatr Gastroenterol Nutr. 7 Aug;45(2):261-4 2007 Author: Isidor B, Rio M, Mourier O, Habes D, Amiel J, Jacquemin E
"The C20orf133 gene is disrupted in a patient with Kabuki syndrome" - J Med Genet. Sep;44(9):562-9 2007 Author: Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, Genevieve D, Lyonnet S, Dimitrov B, Devriendt K, Fryns JP, Vermeesch JR
"What syndrome is this? Kabuki make-up syndrome" - Pediatr Dermatol. 7 May-Jun;24(3):309-12 2007 Author: Salpietro DC, Guarneri F, Rigoli L, Bruglia S, Guarneri C, Vaccaro M
"Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature" - Genet Couns. 18(1):113-7 2007 Author: Ioan DM, Fryns JP
"Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome" - Am J Med Genet A. Jun 15;143(12):1338-41 2007 Author: Gidwani P, Segal E, Shanske A, Driscoll C
"Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child" - Braz Dent J. 17(3):249-54 2006 Author: dos Santos BM, Ribeiro RR, Stuani AS, de Paula e Silva FW, de Queiroz AM
"Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients" - J Pediatr Orthop. Jan-Feb;27(1):37-40 2007 Author: Ramachandran M, Kay RM, Skaggs DL
"A case of Kabuki syndrome presenting West syndrome" - Brain Dev. Jul;29(6):380-2 2007 Author: Ito H, Mori K, Inoue N, Kagami S
"Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G" - Brain Dev. Jul;29(6):373-6 2007 Author: Zannolli R, Buoni S, Macucci F, Scarinci R, Viviano M, Orsi A, de Aloe G, Fimiani M, Volterrani L, de Santi MM, Miracco C, Zappella M, Hayek J
"Kabuki syndrome: a case report" - J Orthod. Dec;33(4):242-5 2006 Author: Lung ZH, Rennie A
"Cleft palate in Kabuki syndrome: a report of six cases" - Cleft Palate Craniofac J. Nov;43(6):756-61 2006 Author: Iida T, Park S, Kato K, Kitano I
"CR10/80--Lymphoid interstitial pneumonia and Kabuki-Syndrome in a young man" - Paediatr Respir Rev. 7 Suppl 1:S329 2006 Author: Zimmermann T, Brasch F, Rauch A, Stachel D, Holter W, Beck JD
"A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine" - J Pediatr Gastroenterol Nutr. Oct;43(4):542-4 2006 Author: Suskind DL, Finn L, Wahbeh G, Christie D, Horslen S
"Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family" - Pediatr Int. Aug;48(4):416-9 2006 Author: Ikezumi Y, Kabuki N, Hayakawa H, Matsui T, Gunji T, Uchiyama M
"Kabuki syndrome and diaphragmatic defect" - Indian Pediatr. Jun;43(6):552-3 2006 Author: Sethi SK, Faridi MM
"Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome" - Pediatr Neurol. Jun;34(6):478-80 2006 Author: Kara B, Kayserili H, Imer M, Caliskan M, Ozmen M
"Cutis aplasia as a feature of Kabuki syndrome" - Clin Dysmorphol. Jul;15(3):179-80 2006 Author: Canham NL
"BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome" - BMC Med Genet.May 18;7:46 2006 Author: Kimberley KW, Morris CA, Hobart HH
"Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy" - Int J Paediatr Dent.May;16(3):222-6 2006 Author: Atar M, Lee W, O'Donnell D
"Children with clinical central diabetes insipidus at King Chulalongkorn Memorial Hospital" - J Med Assoc Thai.Sep;88 Suppl 4:S17-22 2005 Author: Kittayalaksakun S, Suttipong W, Srivuthana S
"No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome" - Am J Med Genet A.Apr 15;140(8):903-5 2006 Author: Hamdi Kamel M, Gilmartin B, Mohan P, Hickey
"Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome" - Pediatr Transplant. Feb;10(1):105-7 2006 Author: Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B
"The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome" - Cardiol Young. Feb;16(1):30-3 2006 Author: McMahon CJ, Reardon W
"Anesthesia management in Kabuki make-up syndrome " - Saudi Med J. Dec;26(12):1980-2 2005 Author: Sivaci R, Kahveci OK, Celik M, Altuntas A, Solak M
"Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome " - Am J Med Genet A.Jan 15;140(2):170-3 2006 Author: Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE
"Coats-type retinal telangiectasia in case of kabuki make-up syndrome (niikawa-kuroki syndrome) " - Ophthalmic Genet.Dec;26(4):181-3 2005 Author: Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM
"Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities " - Int J Pediatr Otorhinolaryngol. Dec 1 2005 Author: Tekin M, Fitoz S, Arici S, Cetinkaya E, Incesulu A
"No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients " - Am J Med Genet ANov 8 2005 Author: Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura KI, Kishino T, Ohta T, Niikawa N, Matsumoto N
"Cutis laxa in Kabuki make-up syndrome " - J Am Acad Dermatol. Nov;53(5 Suppl 1):S247-51 2005 Author: Vaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B
"Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? " - Genet Couns. 16(2):167-71 2005 Author: Belengeanu V, Rozsnyai K, Farcas S, Velea I, Fryns JP
"Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report " - BMC Med Genet. Jul 25;6:28 2005 Author: Shah M, Bogucki B, Mavers M, deMello DE, Knutsen A
"Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome " - J Pediatr Endocrinol Metab. Jun;18(6):607-9 2005 Author: Ma KH, Chow SN, Yau FT
"Structural central nervous system (CNS) anomalies in Kabuki syndrome" - Am J Med Genet A. Aug 15;137(1):100-3 2005 Author: Ben-Omran T, Teebi AS
"Kabuki syndrome presenting with congenital talipes equinovarus " - J Pediatr Orthop B.Jul;14(4):285-6 2005 Author: Phillips S, Hemmady S, Thomas P, ODoherty D
"Immune abnormalities are a frequent manifestation of Kabuki syndrome " - Am J Med Genet A. Jun 15;135(3):278-81. Review 2005 Author: Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE
"Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort " - Eur J Hum Genet. Jun;13(6):716-20 2005 Author: Turner C, Lachlan K, Amerasinghe N, Hodgkins P, Maloney V, Barber J, Temple IK
"Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome " - Eur J Hum Genet. May;13(5):690-3. Review. 2005 Author: Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, Cormier-Daire V, Gerard B, Gerard M, Le Merrer M, Parent P, Prieur F, Prieur M, Raoul O, Toutain A, Verloes A, Viot G, Romana S, Munnich A, Lyonnet S, Vekemans M, Turleau
"Kabuki syndrome: a review " - Clin Genet. Mar;67(3):209-19 2005 Author: Adam MP, Hudgins L.
"Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome" - J Med Genet.Jan;42(1) pp 49-53 2005 Author: Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE
"Neonatal phenotype in Kabuki syndrome" - Am J Med Genet A. Dec 16;132A(3) pp 244-247 2004 Author: Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL
"Further delineation of Kabuki syndrome in 48 well-defined new individuals" - Am J Med Genet A. Dec 22;132A(3) pp 265-272 2004 Author: Armstrong L, Moneim AA, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE
"Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management" - Am J Med Genet A. Dec 3;132A(3) pp 234-243 2004 Author: Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ
"Jaw-winking ptosis in a patient with Kabuki syndrome" - J Pediatr Ophthalmol StrabismusNov-Dec;41(6) pp 369-72 2004 Author: Emmert-Buck LT, Preslan MW, Kathuria SS
"Acanthosis nigricans in Kabuki syndrome" - J Cutan Med Surg.May-Jun;8(3) pp 157-61 2004 Author: Fahim SS, Adam JE
"Expressive language in children with Kabuki syndrome" - Am J Med Genet A.Dec 2;132A(3) pp 256-259 2004 Author: Defloor T, van Borsel J, Schrander-Stumpel CT, Curfs LM
"Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients " - Am J Med Genet A.Dec 2;132A(3) pp 276-277 2004 Author: Engelen JJ, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CT
"Developmental outcome in Kabuki syndrome" - Am J Med Genet A.Nov 2;132A(3) pp 263-264 2004 Author: Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L
"Symptomatic Chiari I malformation in Kabuki syndrome " - Am J Med Genet A.Nov 2;132A(3) pp 273-275 2004 Author: Ciprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE
"Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: A preliminary study" - Am J Med Genet A.Nov 2;132A(3) pp 248-255 2004 Author: Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA
"Autoimmune disorders in Kabuki syndrome " - Am J Med Genet A.Nov 2;132A(3) pp 260-262 2004 Author: Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH
"Temporo-occipital spikes: are they so typical for Kabuki syndrome? " - Pediatr Neurol.Nov;31(5) pp 379; author reply 379-80 2004 Author: Di Gennaro G, Sebastiano F, Quarato PP, Albertini G, Majolini L, Onorati P
"Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome" - Eur J Hum Genet. Oct 20 2004 Author: Schoumans J, Nordgren A, Ruivenkamp C, Brondum-Nielsen K, Teh BT, Anneren G, Holmberg E, Nordenskjold M, Anderlid BM
"Kabuki make-up syndrome" - Indian J Pediatr.Sep;71(9) pp 857-9 2004 Author: Kulkarni ML, Shetty SK, Chandrasekar VK, Kulkarni PM
"A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome " - Am J Med GenetNov 1;130A(4) pp 389-92 2004 Author: David G, Sillence D, Hardwick R, Opitz JM
"Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature" - Am J Med GenetAug 15;129A(1) pp. 64-8 2004 Author: Genevieve D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gerard M, Munnich A, Cormier-Daire V, Lyonnet S
"Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome" - Chang Gung Med JApr;27(4) pp. 307-11 2004 Author: Hou JW
"On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS" - Am J Med GenetJul 15;128A(2) pp. 170-2 2004 Author: Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N
"Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome" - Clin DysmorpholJul;13(3) pp. 143-50 2004 Author: Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE
"Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome" - Am J Med GenetJun 1;127A(2) pp. 118-27 2004 Author: White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A
"New ocular findings in a case of Kabuki syndrome" - EyeMar;18(3) pp. 322-4 2004 Author: Evans SL, Kumar N, Rashid MH, Hughes DS
"A case report of Kabuki make-up syndrome with cytomegalovirus infection" - J InfectApr;48(3) pp. 278-82 2004 Author: Kashawagi Y, Numabe H, Kawashima H, Mori M, Miyajiima T, Tsuyuki K, Takekuma K, Hoshika A
"A diagnostic conundrum: two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?" - Am J Med GenetMar 15;125A(3) pp. 306-9 2004 Author: Galan-Gomez E, Carbonell-Perez JM, Cardesa-Garcia JJ, Val-Sanchez de Leon JM, Campo-Sampedro FM, Martinez-Frias ML, Frias JL
"Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH" - Clin Genet Dec;64(6) pp. 509-16 2003 Author: Milunsky JM, Huang XL
"Long-term follow-up of three individuals with Kabuki syndrome" - Am J Med Genet Mar 1;125A(2) pp. 191-200 2004 Author: Shalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald McGinn DM
"Anaesthetic management in a case of Kabuki syndrome" - Eur J Anaesthesiol Feb;21(2):162-3 2004 Author: Casado AI, Ruiz J, Oro J, Martinez C, Fernandez I, Oliva P
"Occlusal guidance of two Kabuki make-up syndrome patients: case reports" - J Clin Pediatr Dent Winter;28(2) pp. 113-8 2004 Author: Takada K, Fukushima H, Watanabe S, Ishida M, Ogasawara H, Motokawa W
"Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome " - Pediatr Neurol Jan;30(1) pp. 67-70 2004 Author: Oksanen VE, Arvio MA, Peippo MM, Valanne LK, Sainio KO
"Hepatic fibrosis in Kabuki syndrome" - Am J Med Genet Jan 15;124A(2) pp. 209-12 2004 Author: Nobili V, Marcellini M, Devito R, Capolino R, Viola L, Digilio MC
"Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome" - Dev Med Child Neurol Dec;45(12) pp. 841-3 2003 Author: Powell HW, Hart PE, Sisodiya SM
"Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association" - American Journal of Medical Genetics Dec 15;123A(3) pp. 249-52 2003 Author: Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH
"Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy" - J Child Neurol Aug;18(8) pp. 549-51 2003 Author: Ogawa A, Yasumoto S, Tomoda Y, Ohfu M, Mitsudome A, Kuroki Y
"Patient with Kabuki syndrome and acute leukemia" - American Journal of Medical Genetics Sep 15;122(A) pp. 76-9 2003 Author: Scherer S, Theile U, Beyer V, Ferrari R, Kreck C, Rister M
"Kabuki makeup syndrome" - Indian Pediatr July;40(7) pp. 680 2003 Author: Kulkarni ML
"Aural atresia and microtia in Kabuki syndrome" - American Journal of Medical Genetics May 1;118A(4) pp. 391-3 2003 Author: Kokitsu-Nakata NM, Guion-Almeida ML
"A case showing an association between type 1 diabetes mellitus and Kabuki syndrome" - Diabetes Res Clin Pract April;60(1) pp. 25-31 2003 Author: Fujishiro M, Ogihara T, Tsukuda K, Shojima N, Fukushima Y, Kimura S, Oka Y, Asano T
"Periorbital correction in Kabuki syndrome" - Plast Reconstr Surg April 1;111(4) pp. 1461-4 2003 Author: Sakurai H, Nozaki M, Takeuchi M, Soejima K, Kajimoto M, Hori S
"The Kabuki syndrome: four patients with oral abnormalities" - European Journal of Orthodontics Feb;25(1) pp. 13-19 2003 Author: Petzold D, Kratzsch E, Opitz Ch, Tinschert S
"Kabuki make-up syndrome: a review" - American Journal of Medical Genetics Feb 15;117C(1) pp. 57-65 2003 Author: Matsumoto N, Niikawa N
"Defective clavicles in Kabuki syndrome" - Genetic Counsellor 13(4) pp. 477-9 2002 Author: Hinrichs B, Gramss B, Meinecke P
"Speech characteristics in the Kabuki syndrome" - American Journal of Medical Genetics Feb 1;116A(4) pp. 338-41 2003 Author: Upton S, Stadter CS, Landis P, Wulfsberg EA
"Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome" - American Journal of Medical Genetics Sep 1;111(4) pp. 448-49 2003 Author: Elsherbiny SM
"Macular deposits: a new feature of Kabuki syndrome?" - J Pediatr Ophthalmol Strabismus Jul-Aug;39(4) pp. 251-53 2002 Author: Elsherbiny SM
"Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation" - American Journal of Medical Genetics Jul 15;110(4) pp. 384-90 2002 Author: Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S
"Neonatal syndromes of polyendocrinopathy" - Endocrinol Metab Clin North Am Jun;31(2) pp. 283-93 2002 Author: Dotta F, Vendrame F
"Genetics and cardiac anomalies: the heart of the matter" - Indian J Pediatr Apr;69(4) pp. 321-32 2002 Author: Prasad C, Chudley AE
"Kabuki syndrome: a review study of three hundred patients" - Clinical Dysmorphology Apr;11(2) pp. 95-102 2002 Author: Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
"Patellar dislocation in Kabuki syndrome" - American Journal of Medical Genetics Mar 1;108(2) pp. 160-63 2002 Author: Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H
"Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement" - Clinical Dysmorphology Jan;11(1) pp. 71-72 2002 Author: Gabrielli O, Bruni S, Bruschi B, Carloni I, Coppa GV
"Balloon angioplasty in a patient with Kabuki make-up syndrome" - Pediatric Int Dec;43(6) pp. 694-6 2001 Author: Okada Y, Ono S, Tomomasa T, Inoue Y, Morikawa A
"Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome" - Otolaryngology Head Neck Surgery Nov;125(5) pp. 557-8 2001 Author: Fong CT, Wang M, Young EC, Hogan CA, Tallents RH, Kyrkanides S, Liptak GS, Sanger JA, Frisina RD
"Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand " - Clinical Dysmorphology Oct;10(4) pp. 257-62 2001 Author: McGaughran J, Aftimos S, Jefferies C, Winship I
"Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression " - American Journal of Medical Genetics Aug 15;102(3) pp. 286-92 2001 Author: Stankiewicz P, Theile H, Giannakudis I, Schlicker M, Baldermann C, Kruger A, Dorr S, Starke H, Hansmann I
"Hypospadias in a patient with Kabuki make-up (Niikawa Kuroki) syndrome " - Journal of Pediatric Endocrinology Metabolism Jun; 14(6) pp. 803-5 2001 Author: Cetinkaya E, Misirlioglu ED, Vidinlisan S, Baydar Z, Ozhan ZR
"A longitudinal evaluation of craniofacial growth in a patient with Kabuki make-up syndrome: a case report " - EOS April; 23(2) pp. 205-13 2001 Author: Kobayashi ET, Maruyama Y, Kobayashi K
"Congenital heart defects in Kabuki syndrome " - American Journal of Medical Genetics May 15; 100(4) pp. 269-74 Review 2001 Author: Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B
"Biliary atresia and Kabuki syndrome: Another case with long-term follow-up " - American Journal of Medical Genetics May 1; 100(3) pp. 251 2001 Author: Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF
"Niikawa-Kuroki (Kabuki) syndrome in two siblings " - Minerva Pediatr. Feb; 53(1) pp. 43-8 2001 Author: Frediani T, Lucarelli S, Bruni L
"Two patients with Kabuki syndrome presenting with endocrine problems " - Journal of Pediatric Endocrinol Metabolism Feb; 14(2) pp. 215-20 2001 Author: Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F
"Kabuki syndrome in a Haitian patient " - American Journal of Medical Genetics April 22; 100(2) pp. 172-4 2001 Author: Milunsky JM, Cheney SM
"Craniofacial and dental characteristics of Kabuki syndrome " - American Journal of Medical Genetics Jan 15; 98(2) pp. 185-90 2001 Author: Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T
"Speech patterns in Kabuki make-up syndrome: a case report " - J Commun. Disord. Nov;33(6) pp. 447-61;quiz 461-2 2000 Author: Van Lierde KM, Van Borsel J, Van Cauwenberge P
"Unexpected life-threatening complications in kabuki syndrome " - American Journal of Medical Genetics Sep 11;94(2) pp. 170-3 2000 Author: van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ
"Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome " - American Journal of Medical Genetics Jul 31;93(3) pp. 244-9 2000 Author: Courtens W, Rassart A, Stene JJ, Vamos E
"Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency" - Minerva Pediatr. Jan-Feb;52(1-2) pp. 47-53 2000 Author: Gabrielli O, Carloni L, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A
"Inner ear abnormalities in kabuki make-up syndrome: report of three cases" - American Journal of Medical Genetics May 15;92(2) pp. 87-9 2000 Author: Igawa HH, Nishizawa N, Sugihara T, Inuyama Y.
"Kabuki syndrome - Report of six cases and review of the literature with emphasis on ocular features" - Ophthalmic Genetics Mar;21(1) pp. 51-61 2000 Author: Kluijt I, van Dorp DB, Kwee ML, Toutain A, Keppler-Noreuil K, Warburg M, Bitoun P.
"Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?" - American Journal of Medical Genetics Mar 13;91(2) pp. 164-5 2000 Author: Donadio A, Garavelli L, Banchini G, Neri G.
"Biliary atresia in Kabuki syndrome" - American Journal of Medical Genetics Mar 13;91(2) pp. 157-8 2000 Author: McGaughran JM, Donnai D, Clayton-Smith J.
"Niikawa-Kuroki syndrome" - Minerva Pediatr. Jul-Aug;51(7-8) pp. 271-8 1999 Author: Roccella M.
"Kabuki syndrome: description of dental findings in 8 patients" - Clinical Genetics 56(2) pp. 154-7 1999 Author: Mhanni AA, et al.
"Genetic landmarks through philately--Kabuki theater and Kabuki syndrome" - Clinical Genetics 56(2) pp. 116-7 1999 Author: Mhanni AA, et al.
"Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41" - Medical Genetics 86(3) pp. 285-288 1999 Author: Makita Y, et al.
"Lower lip pits and anorectal anomalies in Kabuki syndrome" - American Journal of Medical Genetics 86(3) pp. 282-284 1999 Author: Kokitsu-Nakata NM, et al.
"Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome" - Pediatric Neurology 21(2) pp. 566-8 1999 Author: Di Gennaro G, et al.
"Phenotypic spectrum and management issues in Kabuki syndrome" - Journal of Pediatrics 134(4) pp. 480-5 1999 Author: Kawame H, et al.
"Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management" - American Journal of Medical Genetics 79 pp. 112-120 1998 Author: Wilson, G. N.
"Severe Congenital Anomalies Requiring Transplantation in Children with Kabuki Syndrome" - American Journal of Medical Genetics 80 (4) pp. 362-367 1998 Author: Ewart-Toland A, et al
"Kabuki Syndrome" - Ear Nose Throat Journal 79 (9) p. 734 1998 Author: Olney AH, et al
"Kabuki Make-Up Syndrome and Report of a Case of Hydrocephalus" - Child's Nerv Syst 14 (16) pp. 230-235 1998 Author: Kasuya H, et al
"Interstitial Dup (1p) with Finding of Kabuki Make-Up Syndrome" - American Journal of Medical Genetics 78 (1) pp. 55-57 1998 Author: Lo IF, et al
"Kabuki (Niikawa-Kuroki) sydrome associated with immunodeficiency" - Clinical Genetics 53 (4) pp. 308-312 1998 Author: Chrzanowska KH, et al
"Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome" - Genetic Counselling 9 (1) pp. 57-58 1998 Author: Fryns JP, et al
"Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2)" - Genomics 47 (1) pp. 125-130 1998 Author: Dode C, et al
"CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review" - American Journal of Medical Genetics 72 (2) pp. 205-209 1997 Author: Chu DC, et al
"Ring chromosome X in a child with manifestations of Kabuki syndrome" - American Journal of Medical Genetics 70 (1) pp. 37-42 1997 Author: McGinniss MJ, et al
"Otolaryngologic manifestations of Kabuki syndrome" - Int. J Pediatr Otorhinolaryngol 38 (3) pp. 227-236 1997 Author: Peterson-Falzone SJ, et al
"Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature" - Genetic Counselling 8 (2) pp. 99-105 1997 Author: Toutain A, et al
"Agenesis of the Corpus Callosum in Turner Syndrome with Ring X" - Dev. Med. Child Neurol. 39 (2) pp. 119-124 1997 Author: Abd SE, et al
"Hardikar Syndrome: A New Syndrome with Cleft Lip/Palate, Pigmentary Retinopathy and Cholestasis" - American Journal of Medical Genetics 71 (4) pp. 472-474 1997 Author: Cools F, et al
"Ectodermal Abnormalities in Kabuki Syndrome" - American Journal of Medical Genetics 73 pp. 263-266 1997 Author: Margherita Lerone, et al
"Dominant inheritance of Kabuki make-up syndrome" - American Journal of Medical Genetics 73 (1) pp. 19-23 1997 Author: Tsukahara M, et al
"Kabuki make-up syndrome associated with West syndrome" - Acta Paediatrica Japonica 39 pp. 392-394 1997 Author: Mitsudome A, et al
"Cerebellar and Brainstem 'Atrophy' in a Patient With Kabuki Make-Up Syndrome" - American Journal of Medical Genetics 71 pp. 486-487 1997 Author: Yano S, et al
"Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features" - Developmental Medicine & Child Neurology 39 pp. 487-490 1997 Author: Ho HH, et al
"Inheritance in Kabuki Make-Up (Niikawa-Kuroki) Syndrome" - American Journal of Medical Genetics 61 pp. 92-93 1996 Author: Kobayashi O, et al
"Kabuki Syndrome Is Not Caused by a Microdeletion in the DiGeorge/Velocardiofacial Chromosomal Region Within 22q11.2" - American Journal of Medical Genetics 65 pp. 101-103 1996 Author: Li M, et al
"Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome" - American Journal of Medical Genetics 66 (3) pp. 368 1996 Author: Silengo M, et al
"Large congenital follicular ovarian cyst in a girl with Kabuki syndrome" - American Journal of Medical Genetics 65 (1) pp. 90-91 1996 Author: Devriendt K, et al
"Kabuki syndrome in son and low grade mosaic 45, X/46, XX in mother" - Genetic Counselling 7 (3) pp. 201-206 1996 Author: Van Hagen JM, et al
"Microcephaly, Macrotia, Unusual Mimics and Mental Retardation Syndrome: New Syndrome or Variant of De Lange Type 2 Syndrome" - Genetic Counselling 4 pp. 277-282 1996 Author: Verloes A, et al
"Kabuki Make-up Syndrome Associated with an Acquired Hypogammaglobulinemea and Anti-IgA Antibodies" - Clinical Pediatrics 35 (5) pp. 273-276 1996 Author: Hostoffer RW, et al
"A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma" - Acta Paediatrica Japonica 38 pp. 66-68 1996 Author: Ijichi O, et al
"Kabuki Make-Up (Niikawa-Kuroki) Syndrome in the Byelorussian Register of Congenital Malformations: Ten New Observations" - American Journal of Medical Genetics 56 pp. 127-131 1995 Author: Ilyina H, et al
"Kabuki Make-Up (Niikawa-Kuroki) Syndrome in Five Spanish Children" - American Journal of Medical Genetics 59 pp. 276-282 1995 Author: Galan-Gomez E, et al
"Growth Hormone Deficiency and Premature Thelarche in a Female Infant with Kabuki Makeup Syndrome" - Hormone Research 43 pp. 303-306 1995 Author: Devriendt K, et al
"Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13" - Medical Genetics 32 pp. 227-230 1995 Author: Lynch SA, et al
"Congenital velopharyngeal incompetence in Kabuki make-up syndrome" - International Journal of Oral Maxillofactory Surgeries 24 pp. 298-300 1995 Author: Lan K, et al
"Kabuki Make-Up Syndrome" - Mendelian Inheritance in Man: a catalog of human genes & genetic disorders, 11th edition, Baltimore, Johns Hopkins, 1994
"Coarctation of the aorta in Kabuki syndrome" - Archives of Disease in Childhood 70 pp. 512-514 1994 Author: Hughes HE, et al
"The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia" - Clinical Genetics 45 pp. 330-331 1994 Author: Devriendt K, et al
"The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients" - European Journal of Pediatrics 153 pp. 438-445 1994 Author: Schrander-Stumpel C, et al
"Premature thelarche in Kabuki make-up syndrome" - Acta Paediatrica Japonica 36 pp. 104-106 1994 Author: Tutar HE, et al
"Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura" - Acta Paediatrica Japonica 36 pp. 727-729 1994 Author: Watanabe T, et al
"A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction" - Acta Paediatrica Japonica 36 pp. 412-415 1994 Author: Tawa R, et al
"Kabuki make-up and Turner syndromes in the same patient" - Clinical Dysmorphology 3 pp. 297-300 1994 Author: Wellesley DG, et al
"Peters'-Plus Syndrome: report on an unusual case" - Pathologica 86 pp. 673-675 1994 Author: Camera G, et al
"Kabuki (Niikawa-Kuroki) Syndrome and Paracentric inversion of the Short Arm of Chromosome 4" - American J of Med Genetics 53 pp. 204-205 1994 Author: Fryons J-P, et al
"Kabuki Syndrome: Underdiagnosed Recognizable Pattern in Cleft Palate Patients" - Cleft Palate Craniofacial Journal 32 pp. 77-84 1994 Author: Burke LW, et al
"Congenital Heart Disease in Kabuki Syndrome" - Proc. Greenwood Genet. Ctr.13 pp. 91 1994 Author: Hughes HE, et al
"Fetal Hemodynamics Acting on Vulnerable Connective Tissue may Cause the Cardiac Defects in the Kabuki Make-Up Syndrome" - Proc. Greenwood Genet. Ctr. 13 p. 92 1994 Author: Wolfsberg EA, et al
"Kabuki make-up syndrome: Extending the phenotype to include immunological disease and persistent hypoglycemia" - Proc Greenwood Genetic Ctr 13 pp. 92-93 1994 Author: Bay CA, Wegner
"Recurrent Dislocation of the Patella in Kabuki Make-up Syndrome" - Journal of Pediatric Orthopaedics 13 pp. 265-267 1993 Author: Ikegawa S, et al
"Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome" - Clinical Dysmorphology 2 pp. 269-273 1993 Author: Jardine PE, et al
"Kabuki make-up syndrome and hearing impairment" - Clinical Dysmorphology 2 pp. 68-70 1993 Author: Say B, et al
"Lower Lip Pits and Complete Idiopathic Precocious Puberty in a Patient With Kabuki Make-Up (Niikawa-Kuroki) Syndrome" - American Journal of Medical Genetics 47 pp. 423-425 1993 Author: Franceschini P, et al
"Kabuki Make-up Syndrome Associated with Congenital Heart Disease" - Acta Paediatrica Sinica 35 pp. 63-69 1993 Author: Wang LC, et al
"Kabuki Make-Up (Niikawa-Kuroki) Syndrome In A Girl Presenting With Vitiligo Vulgaris, Cleft Palate, Somatic And Psychomotor Retardation And Facial Dysmorphism" - Genetic Counselling 4(1) pp. 71-72 1993 Author: Schrander-Stumpel C, et al
"Coarctation of the aorta in Kabuki syndrome" - American Journal of Human Genetics (Suppl. to 1994 article-same title) 53:54 1993 Author: Hughes HE, Davies SJ
"Clinical Delineation and New Aspects of Kabuki Make-Up (Niikawa-Kuroki) Syndrome" - New trends in pediatric neurology, Feferman N, Chamoles NA (eds); Elsevier Science Publishers, Amsterdam pp. 111-116 1993 Author: Kuroki Y, et al
"Kabuki Make-Up Syndrome. A Case Report (Niikawa-Kuroki Syndrome)" - Genetic Counselling Jan 1, 4 pp. 85 1993 Author: Pfeiffer L, et al
"A Case of Kabuki Make-Up Syndrome Associated with Growth Hormone Deficiency" - Clinical Pediatric Endocrinology 2 pp. 13-16 1993 Author: Satoh M, et al
"Three Patients with Ring (X) Chromosomes and a Severe Phenotype" - Journal of Medical Genetics Jun 1, 30(6) pp. 482-486 1993 Author: Dennis NR, et al
"Kabuki make-up-Ullrich-Turner syndrome: report of 12 patients" - European Society of Human Genetics 1993 Author: Kajii T, Tsukahara M
"Anorectal Anomalies Associated With Kabuki Make-Up Syndrome" - Journal of Pediatric Surgery 27 (12) pp. 1600-1602 1992 Author: Matsumura M, et al
"Connective Tissue Findings In Kabuki Make-Up Syndrome" - Proc Greenwood Genet Center 12 pp. 125 1992 Author: Louanne Hudgins,et al
"Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases" - Clinical Dysmorphology 1 pp. 63-77 1992 Author: Philip N, et al
"Kabuki Make-Up Ullrich-Turner Syndrome. Report of 12 Patients" - Abstract for the annals of the 24th meeting of the European Society of Human Genetics, Denmark 1992 Author: Kajii T, et al
"The Combination of Vitiligo Vulgaris with Somatic and Psychomotor Retardation, Cleft Palate and Facial Dysmorphism: A Distinct Entity?" - Genetic Counselling 2 pp. 259-261 1991 Author: Schrander-Stumpel et al
"Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two sicilian children" - Pediatric Radiology 21 pp. 428-431 1991 Author: Carcione A, et al
"Kabuki Make-up Syndrome (Niikawa-Kuroki Syndrome) with Cleft Lip and Palate" - J Cranio-Max-Fac Surg 19 pp. 99-101 1991 Author: Handa Y, Maeda K, et al
"Growth Hormone Insufficiency in Kabuki Make-up Syndrome" - Acta Paediatrica Scand (Suppl) 370 pp. 196 1990 Author: Kawada Y, et al
"The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child" - Clinical Genetics 38 pp. 378-381 1990 Author: Gillis R, et al
"Kabuki Make-Up Syndrome In Three Caucasian Children" - Proc Greenwood Genet Center p. 93 1990 Author: Lorne A. Clarke, Judith G. Hall
"Kabuki Makeup Syndrome (Niikawa-Kuroki Syndrome) in a Black Child" - Ann Ophthalmol 21 pp. 312-315 1989 Author: Pe Benito R, et al
"Autosomal Dominant Inheritance of the Kabuki Make-Up (Niikawa-Kuroki) Syndrome" - American Journal of Medical Genetics 33 pp. 376-381 1989 Author: Halal F, et al
"Kabuki Make-Up Syndrome in a Caucasian" - Dysmorphology and Clinical Genetics 3 pp. 103-107 1989 Author: Peter Meinecke, Alexander Rodewald
"Niikawa-Kuroki (Kabuki make-up) syndrome" - American Journal of Medical Genetics 33 (3) pp. 425 1989 Author: Mulvihill JJ, et al
"Kabuki Make-Up (Niikawa-Kuroki) Syndrome: A Study of 62 Patients" - American Journal of Medical Genetics 31 pp. 565-589 1988 Author: Niikawa N, et al
"Precocious puberty in Kabuki make-up syndrome" - Journal of Pediatrics 110 pp. 750-752 1987 Author: Kuroki Y, et al
"Kabuki Make-up Syndrome Associated With Megaureter" - Acta Paediatrica Japonica 29 pp. 182-185 1987 Author: Iwama Y, et al
"The Niikawa-Kuroki (Kabuki Make-Up) Syndrome in an American Black" - American Jounal of Ophthalmolgy 102 pp. 667-668 1986 Author: Kaiser-Kupfer MI, et al
"Kabuki make-up syndrome in a Caucasian" - Opthalmic Pediatrics and Genetics 7 pp. 97-100 1986 Author: Pagon RA, et al
"Niikawa-Kuroki Syndrome (Kabuki Make-up Syndrome) In A Hispanic Child" - Pediatr Res 20 pp. 340A 1986 abstract Author: Tariq M, et al
"Kabuki make-up syndrome* (Niikawa-Kuroki syndrome) associated with congenital heart disease" - Journal of Medical Genetics 22 pp. 126-127 1985 Author: Ohdo S, et al
"Kabuki make-up syndrome in Europe" - Journal of Pediatrics 105 pp. 848-850 1984 Author: Braun OH, et al
"Kabuki Make-up syndrome in a Libyan girl" - Al Fateh Medical Journal July pp. 85-86 1983 Author: Abushwereb AK
"The dermatoglyphic pattern of the Kabuki make-up syndrome" - Clinical Genetics 21 pp. 315-320 1982 Author: Niikawa N, et al
"Niikawa-Kuroki syndrome: A new malformation syndrome of postnatal dwarfism, mental retardation, unusual face, and protruding ears" - Journal of Pediatrics 101 pp. 417-419 1982 Author: Koutras A, et al
"Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency" - The Journal of Pediatrics 99 (4) pp. 565-569 1981 Author: Niikawa N, et al
"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation" - The Journal of Pediatrics 99 (4) pp. 570-573 1981 Author: Kuroki Y, et al

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