Detalhe da pesquisa
1.
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Clin Genet
; 106(1): 47-55, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38378010
2.
Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
Am J Med Genet A
; : e63601, 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562122
3.
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations.
Am J Med Genet A
; 194(3): e63422, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37876363
4.
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient.
Am J Med Genet A
; : e63566, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357848
5.
Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
J Med Genet
; 60(2): 204-211, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35477554
6.
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
7.
Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.
J Hum Genet
; 68(4): 287-290, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526684
8.
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
J Med Genet
; 59(10): 957-964, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916232
9.
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Am J Med Genet A
; 188(3): 788-805, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863015
10.
Bosley-Salih-Alorainy syndrome in patients from India.
Am J Med Genet A
; 182(11): 2699-2703, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32864817
11.
The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Hum Mutat
; 40(3): 299-309, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30488656
12.
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
J Hum Genet
; 64(12): 1237-1242, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591492
13.
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Am J Med Genet A
; 173(3): 588-595, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127940
14.
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Am J Med Genet A
; 170A(2): 410-417, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26601801
15.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Am J Med Genet A
; 170(10): 2719-30, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338287
16.
A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.
Am J Med Genet A
; 164A(4): 1035-40, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458843
17.
Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.
Indian J Pediatr
; 91(2): 184-187, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773198
18.
Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX.
Matrix Biol
; 115: 81-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526215
19.
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Biochim Biophys Acta Mol Basis Dis
; 1869(6): 166741, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37146916
20.
Exome Sequencing in Monogenic Forms of Rickets.
Indian J Pediatr
; 90(12): 1182-1190, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692815