Detalhe da pesquisa
1.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
2.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
3.
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Am J Med Genet A
; 182(12): 2877-2886, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043602
4.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
5.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
6.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
7.
A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
Genet Med
; 20(1): 142-150, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726812
8.
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).
Am J Med Genet A
; 176(2): 301-310, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29210515
9.
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Am J Med Genet A
; 176(11): 2259-2275, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194818
10.
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
Am J Med Genet A
; 173(5): 1342-1347, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28337834
11.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
J Med Genet
; 53(1): 62-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26490104
12.
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
J Allergy Clin Immunol
; 138(4): 1142-1151.e2, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27484032
13.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499310
14.
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
Mol Genet Metab
; 117(4): 438-46, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26846156
15.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mol Genet Metab
; 115(1): 41-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25892708
16.
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.
J Inherit Metab Dis
; 37(5): 823-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24596019
17.
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
Skeletal Radiol
; 43(3): 359-69, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24389823
18.
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
Genet Med
; 15(5): 399-407, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23519317
19.
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
Mol Genet Metab
; 109(1): 41-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23537841
20.
The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.
Am J Med Genet C Semin Med Genet
; 160C(1): 1-7, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253049