Detalhe da pesquisa
1.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
2.
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 182(5): 962-973, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32031333
3.
Recurrent sterile abscesses in a case of X-linked neutropenia.
Pediatr Dermatol
; 37(4): 742-744, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202653
4.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
5.
Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.
Cytogenet Genome Res
; 152(3): 117-121, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854430
6.
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.
J Genet
; 1022023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36814108
7.
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet
; 131(1): 145-56, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21800092
8.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
J Med Genet
; 48(4): 226-34, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21398687
9.
Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15.
F S Rep
; 3(3): 192-197, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36212558
10.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35599849
11.
Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient.
Pediatr Cardiol
; 31(6): 872-4, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20411253
12.
Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.
Prenat Diagn
; 29(10): 966-74, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19609942
13.
Delays in diagnosing cystic fibrosis: can we find ways to diagnose it earlier?
Can Fam Physician
; 54(6): 877-83, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18556497
14.
Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.
Am J Med Genet A
; 143A(24): 2931-6, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17955513
15.
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Nat Genet
; 46(5): 510-515, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705253
16.
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.
Clin Dysmorphol
; 25(2): 77-81, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26636500
17.
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
Eur J Hum Genet
; 19(9): 959-64, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21522184
18.
Research of the holiday kind. Audiovisual hyperactivity disorder (AVHD): a peril of the desire to excel.
CMAJ
; 167(12): 1331-3, 2002 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-12473619