Detalhe da pesquisa
1.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord
; 39(1): 141-151, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964426
2.
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
3.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
4.
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int
; 98(6): 1589-1604, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750457
5.
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Am J Med Genet A
; 182(6): 1426-1437, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32275123
6.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
7.
A novel missense mutation in the transcription factor FOXF1 cosegregating with infantile hypertrophic pyloric stenosis in the extended pedigree linked to IHPS5 on chromosome 16q24.
Pediatr Res
; 81(4): 632-638, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27855150
8.
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
BMC Nephrol
; 18(1): 234, 2017 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28701203
9.
Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.
Kidney Int
; 90(1): 203-11, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27234567
10.
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Nat Genet
; 38(9): 1032-7, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906163
11.
Familial interstitial nephritis: 42 years from case series to genetic diagnosis.
Clin Nephrol
; 91(6): 386-388, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686289
12.
SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation.
J Biol Chem
; 286(24): 21393-400, 2011 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-21515671
13.
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Am J Hum Genet
; 84(6): 780-91, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19500772
14.
Clinical geneticists' views of VACTERL/VATER association.
Am J Med Genet A
; 158A(12): 3087-100, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165726
15.
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia.
Pediatr Diabetes
; 13(4): 314-21, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369132
16.
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
J Med Genet
; 48(3): 197-204, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278390
17.
16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Pediatr Crit Care Med
; 12(6): e427-32, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21572369
18.
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.
HGG Adv
; 2(1): 100015, 2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33537682
19.
Review of genetic factors in intestinal malrotation.
Pediatr Surg Int
; 26(8): 769-81, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20549505
20.
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.
Genet Med
; 11(3): 139-46, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19367186