Detalhe da pesquisa
1.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352860
2.
An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational Therapies.
Gastroenterology
; 166(2): 298-312.e14, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37913894
3.
Single-cell transcription profiles in Bloom syndrome patients link BLM deficiency with altered condensin complex expression signatures.
Hum Mol Genet
; 31(13): 2185-2193, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35099000
4.
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.
Hum Genet
; 143(2): 159-168, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38265560
5.
Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta.
Fetal Diagn Ther
; 2024 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346409
6.
3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere Changes.
Int J Mol Sci
; 25(6)2024 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38542157
7.
Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Hum Genet
; 142(4): 543-552, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943452
8.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576126
9.
Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes.
Circ Res
; 128(6): e102-e120, 2021 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486968
10.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172529
11.
Survey of germline variants in cancer-associated genes in young adults with colorectal cancer.
Genes Chromosomes Cancer
; 61(2): 105-113, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34761457
12.
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Hum Mutat
; 43(10): 1454-1471, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790048
13.
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
14.
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
15.
Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients.
Basic Res Cardiol
; 117(1): 13, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260914
16.
Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
Clin Genet
; 102(3): 239-241, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670639
17.
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Clin Genet
; 101(5-6): 559-564, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218564
18.
RNF43 pathogenic Germline variant in a family with colorectal cancer.
Clin Genet
; 101(1): 122-126, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541672
19.
Genomic basis of syndromic short stature in an Algerian patient cohort.
Am J Med Genet A
; 188(2): 606-612, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34644002
20.
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.
Am J Med Genet A
; 188(7): 2061-2070, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393770