Detalhe da pesquisa
1.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
2.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
3.
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.
Am J Med Genet A
; 185(9): 2719-2738, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087052
4.
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Am J Med Genet A
; 182(10): 2372-2376, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744776
5.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Am J Med Genet A
; 182(8): 1977-1984, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573066
6.
Expanding the clinical spectrum associated with PACS2 mutations.
Clin Genet
; 95(4): 525-531, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30684285
7.
POGZ-related epilepsy: Case report and review of the literature.
Am J Med Genet A
; 179(8): 1631-1636, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31136090
8.
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Cytogenet Genome Res
; 156(2): 87-94, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372694
9.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Cytogenet Genome Res
; 151(4): 179-185, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478456
10.
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
Am J Med Genet A
; 173(7): 1943-1946, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28489314
11.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Am J Med Genet A
; 170A(1): 162-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333654
12.
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.
Cardiol Young
; 23(1): 14-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22391434
13.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Hum Mutat
; 32(7): 760-72, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21387466
14.
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
Hum Mutat
; 30(4): 695-702, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19206169
15.
A restricted spectrum of NRAS mutations causes Noonan syndrome.
Nat Genet
; 42(1): 27-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19966803
16.
Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings.
Clin Dysmorphol
; 23(1): 32-34, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24300293