Detalhe da pesquisa
1.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Am J Hum Genet
; 109(10): 1828-1849, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084634
2.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
3.
A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.
Am J Med Genet A
; 194(1): 39-45, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750049
4.
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
Mol Genet Genomics
; 298(3): 709-720, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37010587
5.
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Clin Genet
; 104(3): 344-349, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37157980
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.
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
8.
A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
Am J Med Genet A
; 188(10): 2861-2868, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097642
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.
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
Heliyon
; 10(1): e23688, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192829
11.
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
Am J Hum Genet
; 87(1): 110-4, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20579626
12.
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.
Mol Neurobiol
; 2023 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38153683
13.
Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
Congenit Anom (Kyoto)
; 62(2): 68-77, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34962003
14.
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.
Eur J Med Genet
; 65(1): 104377, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34748996