Detalhe da pesquisa
1.
Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator.
Clin Genet
; 92(2): 166-171, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27925162
2.
Clinical implementation of NIPT - technical and biological challenges.
Clin Genet
; 89(5): 523-30, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25867715
3.
Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.
Indian Pacing Electrophysiol J
; 14(3): 133-49, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24948852
4.
Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements.
J Med Genet
; 47(2): 103-11, 2010 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19584065
5.
Clinical spectrum of congenital corneal staphyloma: a case report.
Bull Soc Belge Ophtalmol
; (318): 7-10, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-22003758
6.
17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
J Med Genet
; 46(8): 524-30, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19502243
7.
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
J Med Genet
; 46(4): 223-32, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18550696
8.
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
J Med Genet
; 46(8): 511-23, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19372089
9.
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
Hum Mutat
; 30(9): E845-54, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19533689
10.
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
J Med Genet
; 43(8): 625-33, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16490798
11.
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
J Med Genet
; 43(4): 306-14, 2006 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-16155193
12.
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
Cytogenet Genome Res
; 115(3-4): 225-30, 2006.
Artigo
Inglês
| MEDLINE | ID: mdl-17124404
13.
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
J Med Genet
; 42(5): e29, 2005 May.
Artigo
Inglês
| MEDLINE | ID: mdl-15863661
14.
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.
J Clin Endocrinol Metab
; 80(12): 3591-5, 1995 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-8530604
15.
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Eur J Hum Genet
; 7(1): 52-9, 1999 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-10094191
16.
Tetra-amelia and splenogonadal fusion in Roberts syndrome.
Am J Med Genet
; 68(2): 185-9, 1997 Jan 20.
Artigo
Inglês
| MEDLINE | ID: mdl-9028456
17.
Possible isochromosome 22 leading to trisomy 22.
Am J Med Genet
; 95(5): 411-4, 2000 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-11146458
18.
Maternal origin of extra haploid set of chromosomes in third trimester triploid fetuses.
Am J Med Genet
; 58(4): 360-4, 1995 Sep 25.
Artigo
Inglês
| MEDLINE | ID: mdl-8533847
19.
Lethal neonatal mandibuloacral dysplasia.
Am J Med Genet
; 66(1): 52-4, 1996 Dec 02.
Artigo
Inglês
| MEDLINE | ID: mdl-8957511
20.
The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.
J Med Genet
; 45(3): 189-92, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18310269