Detalhe da pesquisa
1.
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C.
J Hum Genet
; 69(2): 79-84, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38017281
2.
Delineating the phenotype of PNPLA8-related mitochondriopathies.
Clin Genet
; 105(1): 92-98, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671596
3.
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Clin Genet
; 105(5): 510-522, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221827
4.
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Am J Med Genet A
; 194(2): 226-232, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798908
5.
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.
Mol Genet Genomics
; 298(4): 919-929, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140700
6.
CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.
Am J Med Genet A
; 191(8): 2100-2112, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183573
7.
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
Mol Biol Rep
; 50(8): 6373-6379, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318662
8.
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy.
Osteoporos Int
; 33(7): 1501-1510, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106624
9.
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.
Am J Med Genet A
; 188(6): 1815-1825, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278031
10.
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.
Neurogenetics
; 22(4): 287-295, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338917
11.
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.
Clin Genet
; 98(5): 445-456, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32740904
12.
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Am J Med Genet A
; 182(6): 1407-1420, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32267100
13.
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
Prenat Diagn
; 40(12): 1578-1597, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32833257
14.
Phenotypic and mutational spectrum of thirty-five patients with Sjögren-Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects.
J Hum Genet
; 64(9): 859-865, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273323
15.
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
Metab Brain Dis
; 32(3): 679-683, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28332073
16.
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Neuron
; 109(2): 241-256.e9, 2021 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220177