134 related articles for article (PubMed ID: 38162154)
41. Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
Tüysüz B; Ungür S
Am J Med Genet A; 2003 Jun; 119A(3):375-80. PubMed ID: 12784309
[TBL] [Abstract][Full Text] [Related]
42. Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree.
Zhao M; Zhang R; Chang C; Jin Y; Xu L; Guo S; Schrodi S; He Y; He D
Front Med (Lausanne); 2023; 10():1244888. PubMed ID: 38020103
[TBL] [Abstract][Full Text] [Related]
43. Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Travessa AM; Díaz-González F; Mirco T; Oliveira-Ramos F; Parrón-Pajares M; Heath KE; Sousa AB
Am J Med Genet A; 2020 Nov; 182(11):2715-2721. PubMed ID: 32856782
[TBL] [Abstract][Full Text] [Related]
44. Czech dysplasia metatarsal type: another type II collagen disorder.
Hoornaert KP; Marik I; Kozlowski K; Cole T; Le Merrer M; Leroy JG; Coucke PJ; Sillence D; Mortier GR
Eur J Hum Genet; 2007 Dec; 15(12):1269-75. PubMed ID: 17726487
[TBL] [Abstract][Full Text] [Related]
45. Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).
Sabir AH; Singhal J; Man J; Mensah NE; Ahn JW; Cheung MS; Irving M
Clin Dysmorphol; 2021 Jul; 30(3):154-158. PubMed ID: 33605604
[TBL] [Abstract][Full Text] [Related]
46. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
Williams CJ; Ganguly A; Considine E; McCarron S; Prockop DJ; Walsh-Vockley C; Michels VV
Am J Med Genet; 1996 Jun; 63(3):461-7. PubMed ID: 8737653
[TBL] [Abstract][Full Text] [Related]
47. Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Al-Sannaa NA; Hoornaert KP; Van Laer L; Al-Abdulwahed HY; Mortier G
Eur J Med Genet; 2020 Dec; 63(12):104059. PubMed ID: 32896647
[TBL] [Abstract][Full Text] [Related]
48. A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.
Chu FC; Hii LY; Hung TH; Lo LM; Hsieh TT; Shaw SW
Taiwan J Obstet Gynecol; 2021 Mar; 60(2):359-362. PubMed ID: 33678343
[TBL] [Abstract][Full Text] [Related]
49. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
Jurgens J; Sobreira N; Modaff P; Reiser CA; Seo SH; Seong MW; Park SS; Kim OH; Cho TJ; Pauli RM
Hum Mutat; 2015 Oct; 36(10):1004-8. PubMed ID: 26183434
[TBL] [Abstract][Full Text] [Related]
50. Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type.
Nair N; Satapathy AK; Gupta N; Kabra M; Gupta AK; Jana M
Indian J Pediatr; 2016 Oct; 83(10):1191-4. PubMed ID: 27130511
[TBL] [Abstract][Full Text] [Related]
51. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.
Cadoff EB; Sheffer R; Wientroub S; Ovadia D; Meiner V; Schwarzbauer JE
Clin Genet; 2018 Nov; 94(5):429-437. PubMed ID: 30051459
[TBL] [Abstract][Full Text] [Related]
52. Spondylometaphyseal dysplasia, type VII.
Diren HB; Büyükgebiz B; Büyügebiz A; Pirnar T
Pediatr Radiol; 1992; 22(2):87-9. PubMed ID: 1501957
[TBL] [Abstract][Full Text] [Related]
53. Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco.
Mattern L; Begemann M; Delbrück H; Holschbach P; Schröder S; Schacht SM; Kurth I; Elbracht M
Bone Rep; 2023 Jun; 18():101683. PubMed ID: 37214758
[TBL] [Abstract][Full Text] [Related]
54. The phenotypic spectrum of COL2A1 mutations.
Nishimura G; Haga N; Kitoh H; Tanaka Y; Sonoda T; Kitamura M; Shirahama S; Itoh T; Nakashima E; Ohashi H; Ikegawa S
Hum Mutat; 2005 Jul; 26(1):36-43. PubMed ID: 15895462
[TBL] [Abstract][Full Text] [Related]
55. Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Akahira-Azuma M; Enomoto Y; Nakamura N; Yokoi T; Minatogawa M; Harada N; Tsurusaki Y; Kurosawa K
Hum Genome Var; 2022 May; 9(1):16. PubMed ID: 35581182
[TBL] [Abstract][Full Text] [Related]
56. A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.
Zhang Q; Yao R; Li Q; Li X; Feng B; Chang G; Wang J; Wang X
BMC Med Genomics; 2021 Aug; 14(1):201. PubMed ID: 34380476
[TBL] [Abstract][Full Text] [Related]
57. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
Donahue LR; Chang B; Mohan S; Miyakoshi N; Wergedal JE; Baylink DJ; Hawes NL; Rosen CJ; Ward-Bailey P; Zheng QY; Bronson RT; Johnson KR; Davisson MT
J Bone Miner Res; 2003 Sep; 18(9):1612-21. PubMed ID: 12968670
[TBL] [Abstract][Full Text] [Related]
58. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
Merrick B; Calder A; Wakeling E
Am J Med Genet A; 2015 Dec; 167A(12):3103-7. PubMed ID: 26250472
[TBL] [Abstract][Full Text] [Related]
59. Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
Girisha KM; Bhavani GS; Shah H; Moirangthem A; Shukla A; Kim OH; Nishimura G; Mortier GR
Am J Med Genet A; 2020 Feb; 182(2):338-347. PubMed ID: 31755234
[TBL] [Abstract][Full Text] [Related]
60. Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with
Xu Y; Li L; Wang C; Yue H; Zhang H; Gu J; Hu W; Liu L; Zhang Z
Int J Biol Sci; 2020; 16(5):859-868. PubMed ID: 32071555
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]