Detalhe da pesquisa
1.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.
Proc Natl Acad Sci U S A
; 118(39)2021 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34548398
2.
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Am J Hum Genet
; 105(4): 836-843, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31564437
3.
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
4.
Acanthocytosis: a key feature for the diagnosis of abetalipoproteinemia.
Blood
; 141(26): 3231, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37382999
5.
Genetic analysis of adults heterozygous for ALPL mutations.
J Bone Miner Metab
; 36(6): 723-733, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236161
6.
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
7.
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
Hum Mol Genet
; 24(5): 1410-9, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25361962
8.
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.
Hum Mol Genet
; 24(11): 3119-32, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712132
9.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931394
10.
The dark sides of capillary morphogenesis gene 2.
EMBO J
; 31(1): 3-13, 2012 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215446
11.
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Am J Hum Genet
; 92(6): 927-34, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664117
12.
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Am J Hum Genet
; 92(6): 990-5, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23684011
13.
Mutations in WNT1 cause different forms of bone fragility.
Am J Hum Genet
; 92(4): 565-74, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23499309
14.
Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet.
Neuropediatrics
; 47(2): 132-6, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26902182
15.
Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.
Pediatr Blood Cancer
; 62(6): 1091-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504888
16.
Choline-releasing glycerophosphodiesterase EDI3 drives tumor cell migration and metastasis.
Proc Natl Acad Sci U S A
; 109(21): 8155-60, 2012 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570503
17.
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
Am J Hum Genet
; 88(5): 608-15, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549340
18.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
; 50(5): 309-23, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456818
19.
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Adv Ther
; 41(1): 198-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882884
20.
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.
Hum Mutat
; 34(7): 1005-17, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23554269