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.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
3.
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
4.
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
5.
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
6.
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Genet Med
; 23(4): 679-688, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442026
7.
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Hum Mutat
; 41(1): 265-276, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549748
8.
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Am J Med Genet A
; 182(12): 2857-2866, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949109
9.
GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
Am J Med Genet A
; 179(2): 237-242, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30575274
10.
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
J Med Genet
; 55(4): 278-284, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358272
11.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620724
12.
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Hum Mol Genet
; 24(14): 4126-37, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25908617
13.
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
Metab Brain Dis
; 32(2): 311-315, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229379
14.
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Am J Med Genet A
; 167A(12): 3054-61, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284319
15.
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Hum Mutat
; 35(8): 959-63, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24864036
16.
Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation.
Eur J Med Genet
; 65(12): 104640, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243336
17.
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
18.
First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.
Mol Syndromol
; 12(5): 279-288, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34602954
19.
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.
Bone Res
; 9(1): 39, 2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34465741
20.
Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly.
Mol Genet Genomic Med
; 9(11): e1829, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609792