Detalhe da pesquisa
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain;
147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38141063
2.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis;
46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36651519
3.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Am J Hum Genet;
104(5): 914-924, 2019 05 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30982611
4.
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Clin Genet;
99(2): 303-308, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33131077
5.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet;
100(5): 773-788, 2017 May 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28475860
6.
Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
Am J Med Genet A;
182(12): 2994-2998, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32975022
7.
A review of filamin A mutations and associated interstitial lung disease.
Eur J Pediatr;
178(2): 121-129, 2019 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30547349
8.
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness.
Am J Med Genet A;
173(5): 1374-1377, 2017 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28317252
9.
Mutations in PIK3R1 cause SHORT syndrome.
Am J Hum Genet;
93(1): 158-66, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23810382
10.
Biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency.
Cardiol Young;
25(5): 1019-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25023008
11.
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash.
Am J Med Genet A;
158A(9): 2254-7, 2012 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22848014
12.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med;
359(16): 1685-99, 2008 Oct 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18784092
13.
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Am J Hum Genet;
81(6): 1169-85, 2007 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17999358
14.
Elevated TSH levels in a mentally retarded boy.
Eur J Pediatr;
169(5): 573-5, 2010 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19936787
15.
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
Eur J Pediatr;
169(8): 941-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20177701
16.
Response to commentary: biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency.
Cardiol Young;
25(5): 1024-5, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26036773
17.
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
Hum Mutat;
30(3): 379-90, 2009 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19085907
18.
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Eur J Hum Genet;
16(2): 184-91, 2008 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18043713
19.
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome.
Am J Med Genet A;
146A(10): 1296-8, 2008 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18384141
20.
Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
Am J Med Genet A;
146A(2): 233-7, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18080323