Detalhe da pesquisa
1.
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Am J Med Genet A
; 176(9): 2028-2033, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194892
2.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nat Genet
; 38(6): 623-5, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682970
3.
Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome.
J Craniofac Surg
; 25(3): e304-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24820731
4.
Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.
Am J Med Genet A
; 158A(5): 1164-9, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22488877
5.
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
Am J Med Genet A
; 155A(12): 3104-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22069181
6.
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.
Am J Med Genet A
; 152A(11): 2810-5, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20949527
7.
Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.
Am J Med Genet A
; 152A(1): 25-31, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034083
8.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Eur J Hum Genet
; 26(2): 210-219, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348693
9.
Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema-Distichiasis Syndrome.
J Maxillofac Oral Surg
; 15(3): 384-389, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27752211
10.
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Eur J Med Genet
; 56(10): 570-6, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23994350
11.
Schöpf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.
Acta Derm Venereol
; 88(6): 607-12, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19002348
12.
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.
Am J Med Genet A
; 143A(3): 277-84, 2007 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17230485
13.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Ann Neurol
; 59(3): 527-34, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16453322
14.
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Ann Neurol
; 57(4): 513-9, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15786477