Detalhe da pesquisa
1.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
2.
A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Hum Mol Genet
; 28(21): 3543-3551, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31423530
3.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lancet
; 393(10173): 747-757, 2019 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712880
4.
27 years of prenatal diagnosis for Huntington disease in the United Kingdom.
Genet Med
; 21(7): 1639-1643, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30546084
5.
Prevalence and Incidence of Huntington's Disease.
Mov Disord
; 38(8): 1570-1572, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565397
6.
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Pediatr Dev Pathol
; 21(6): 580-584, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29504492
7.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 35-39, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095566
8.
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Am J Hum Genet
; 90(2): 356-62, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284827
9.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Nat Genet
; 38(8): 910-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845400
10.
Opposite effects on facial morphology due to gene dosage sensitivity.
Hum Genet
; 133(9): 1117-25, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24889830
11.
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
Am J Hum Genet
; 88(5): 523-35, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21529752
12.
Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?
Mov Disord
; 34(4): 584-585, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788860
13.
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
J Med Genet
; 50(9): 606-13, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812910
14.
Clinical Review of Juvenile Huntington's Disease.
J Huntingtons Dis
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669553
15.
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Am J Hum Genet
; 87(6): 757-67, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129728
16.
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Nat Genet
; 33(4): 487-91, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12612583
17.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nat Genet
; 36(4): 400-4, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15052268
18.
Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families.
J Am Heart Assoc
; 12(17): e029100, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37589201
19.
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 158A(5): 996-1004, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22438245
20.
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Am J Med Genet A
; 155A(10): 2397-408, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22043478