Detalhe da pesquisa
1.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Nature
; 592(7852): 93-98, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568816
2.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
3.
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Am J Hum Genet
; 109(3): 457-470, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120630
4.
Nosology of genetic skeletal disorders: 2023 revision.
Am J Med Genet A
; 191(5): 1164-1209, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779427
5.
[Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland]. / Diagnostic génétique moléculaire des enfants implantés cochléaires en Suisse romande.
Rev Med Suisse
; 18(798): 1855-1859, 2022 Oct 05.
Artigo
em Francês
| MEDLINE | ID: mdl-36200963
6.
[Short telomere syndrome in adults: a rare entity that should be evoked]. / Syndrome des télomères courts chez l'adulteâ : une entité rare qu'il faut savoir évoquer.
Rev Med Suisse
; 18(793): 1606-1613, 2022 Aug 31.
Artigo
em Francês
| MEDLINE | ID: mdl-36047552
7.
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clin Genet
; 99(6): 780-788, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586135
8.
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Am J Med Genet A
; 185(2): 517-527, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398909
9.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Hum Mutat
; 41(3): 655-667, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705726
10.
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Am J Hum Genet
; 101(5): 815-823, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100092
11.
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
J Hum Genet
; 65(11): 1035-1038, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555312
12.
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.
N Engl J Med
; 374(26): 2553-2562, 2016 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27355534
13.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Genet Med
; 21(12): 2734-2743, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263216
14.
Nosology and classification of genetic skeletal disorders: 2019 revision.
Am J Med Genet A
; 179(12): 2393-2419, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633310
15.
[Abecedary of colonic polyps]. / ABC des polypes coliques.
Rev Med Suisse
; 15(660): 1483-1487, 2019 Aug 28.
Artigo
em Francês
| MEDLINE | ID: mdl-31496171
16.
[Alagille Syndrome]. / Syndrome d'Alagille.
Rev Med Suisse
; 15(660): 1506-1510, 2019 Aug 28.
Artigo
em Francês
| MEDLINE | ID: mdl-31496175
17.
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Hum Mutat
; 38(1): 34-38, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27599773
18.
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genet Med
; 19(4): 386-395, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27632686
19.
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Am J Med Genet A
; 173(3): 733-739, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27888646
20.
Current Care and Investigational Therapies in Achondroplasia.
Curr Osteoporos Rep
; 15(2): 53-60, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28224446