Detalhe da pesquisa
1.
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.
Am J Med Genet A
; 194(3): e63469, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940834
2.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Am J Hum Genet
; 107(5): 989-999, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053334
3.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121912
4.
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
Am J Med Genet A
; 191(1): 280-283, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36164748
5.
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
J Med Genet
; 59(1): 28-38, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106379
6.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Hum Mol Genet
; 29(14): 2435-2450, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620954
7.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
8.
Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Am J Med Genet A
; 188(7): 2162-2167, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316564
9.
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Am J Hum Genet
; 103(5): 786-793, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30343942
10.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057030
11.
Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.
Clin Genet
; 99(2): 309-312, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33140402
12.
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Am J Med Genet A
; 185(3): 856-865, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305909
13.
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
Am J Med Genet A
; 182(4): 628-631, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912643
14.
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Am J Med Genet A
; 182(11): 2715-2721, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856782
15.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A
; 182(9): 2068-2076, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592542
16.
Loss of function BMP4 mutation supports the implication of the BMP/TGF-ß pathway in the etiology of combined pituitary hormone deficiency.
Am J Med Genet A
; 179(8): 1591-1597, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31120642
17.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Genet Med
; 20(1): 91-97, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661490
18.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Genet Med
; 20(6): 630-638, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758562
19.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Clin Endocrinol (Oxf)
; 88(6): 820-829, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464738
20.
Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient.
Am J Med Genet A
; 191(8): 2240-2244, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37128991