Detalhe da pesquisa
1.
Increased prevalence of Kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
Nephrol Dial Transplant
; 2024 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38317457
2.
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
Inglês
| MEDLINE | ID: mdl-33106379
3.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38701747
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30057030
5.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
J Med Genet
; 57(4): 258-268, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31586946
6.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Genet Med
; 20(1): 91-97, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28661490
7.
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
Inglês
| MEDLINE | ID: mdl-29464738
8.
FGF9 mutation causes craniosynostosis along with multiple synostoses.
Hum Mutat
; 38(11): 1471-1476, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28730625
9.
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
J Hum Genet
; 62(2): 229-234, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27604558
10.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30193137
11.
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Hum Mol Genet
; 20(8): 1547-59, 2011 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21262861
12.
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.
Eur J Med Genet
; 66(11): 104867, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37839784
13.
Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.
Genes (Basel)
; 13(11)2022 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36360300
14.
Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.
J Pediatr Endocrinol Metab
; 24(5-6): 395-7, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21823545
15.
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Eur J Med Genet
; 64(5): 104198, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-33746040
16.
Clinical consequences of BRCA2 hypomorphism.
NPJ Breast Cancer
; 7(1): 117, 2021 Sep 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34504103
17.
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Eur J Endocrinol
; 185(5): 691-705, 2021 Oct 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34516402
18.
High content drug screening for Fanconi anemia therapeutics.
Orphanet J Rare Dis
; 15(1): 170, 2020 06 30.
Artigo
Inglês
| MEDLINE | ID: mdl-32605631
19.
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.
J Pediatr Genet
; 9(1): 48-52, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31976144
20.
Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.
Eur J Obstet Gynecol Reprod Biol
; 250: 209-215, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32470698