Detalhe da pesquisa
1.
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Hum Mutat
; 40(11): 1985-1992, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209944
2.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis
; 40(3): 423-431, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205048
3.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543972
4.
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Hum Mutat
; 33(1): 165-79, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21948486
5.
HPPD: A newly recognized autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.
Am J Med Genet A
; 155A(5): 976-85, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21480481
6.
Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.
Am J Med Genet A
; 152A(4): 807-14, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358587
7.
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.
Clin Case Rep
; 5(4): 431-434, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28396763
8.
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
Invest Ophthalmol Vis Sci
; 43(12): 3613-6, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12454026
9.
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
Mol Vis
; 9: 43-8, 2003 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-12592227
10.
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.
Eur J Med Genet
; 57(10): 562-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118007
11.
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Eur J Hum Genet
; 22(8): 969-78, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24398791
12.
Defining the contribution of CNTNAP2 to autism susceptibility.
PLoS One
; 8(10): e77906, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24147096
13.
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Eur J Hum Genet
; 20(12): 1240-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22617343
14.
Harmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and function.
Dis Model Mech
; 4(6): 786-800, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21757509