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 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
9.
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
10.
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
11.
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
12.
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
13.
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
Sci Rep
; 11(1): 12175, 2021 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34108542
14.
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.
Hum Mutat
; 31(12): 1343-51, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886614
15.
Seizure frequency in adults with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 146A(19): 2528-31, 2008 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18792972
16.
Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.
J Med Genet
; 44(3): e68, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17361007
17.
The impact of Juvenile Huntington's Disease on the family: the case of a rare childhood condition.
J Health Psychol
; 13(1): 5-16, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18086713
18.
Prader-Willi and Klinefelter syndrome: a coincidence or not?
Clin Dysmorphol
; 16(2): 127-129, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17351360
19.
Caring for a child with Juvenile Huntington's Disease: helpful and unhelpful support.
J Child Health Care
; 11(1): 40-52, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17287223
20.
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
Eur J Hum Genet
; 14(7): 884-7, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16639408