Detalhe da pesquisa
1.
CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag.
Blood
; 138(6): 480-485, 2021 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010413
2.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Am J Hum Genet
; 101(4): 630-637, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965846
3.
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Am J Hum Genet
; 100(4): 592-604, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28285769
4.
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Am J Hum Genet
; 101(6): 995-1005, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198722
5.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med
; 22(7): 1215-1226, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32376980
6.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Am J Hum Genet
; 99(3): 666-673, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523598
7.
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Am J Med Genet A
; 179(7): 1304-1309, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31004414
8.
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.
Am J Hum Genet
; 96(4): 519-31, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25772936
9.
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Am J Med Genet A
; 176(1): 181-186, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29159987
10.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet
; 93(6): 1118-25, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268655
11.
Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Sleep Breath
; 19(1): 55-60, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24792884
12.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470203
13.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
14.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet
; 49(12): 737-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188108
15.
Germline gain-of-function mutations of ALK disrupt central nervous system development.
Hum Mutat
; 32(3): 272-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21972109
16.
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.
J Clin Endocrinol Metab
; 103(11): 4023-4032, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30137364
17.
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
Clin Dysmorphol
; 27(2): 31-35, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29381487
18.
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
Eur J Hum Genet
; 26(3): 340-349, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330547
19.
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nat Genet
; 49(2): 249-255, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067911
20.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Nat Genet
; 47(11): 1260-3, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437028