132 related articles for article (PubMed ID: 35758145)
21. Ano5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia.
Li X; Wang L; Wang H; Qin A; Qin X
NPJ Genom Med; 2022 Aug; 7(1):48. PubMed ID: 35982081
[TBL] [Abstract][Full Text] [Related]
22. Recurrent femoral shaft fractures in a child with gnathodiaphyseal dysplasia: a case report.
Kuroda T; Okano I; Sawada T; Okamoto S; Midorikawa Y; Tachibana T; Yagi T; Inagaki K
BMC Musculoskelet Disord; 2019 Feb; 20(1):92. PubMed ID: 30797234
[TBL] [Abstract][Full Text] [Related]
23. Surgical Treatment of Pathological Tibial Shaft Fracture in Adult Patient With Gnathodiaphyseal Dysplasia: A Case Report.
Takeda R; Yasui T; Kasai T; Matsumoto T; Matsubara T; Tanaka S
JBJS Case Connect; 2021 Apr; 11(2):. PubMed ID: 33826556
[TBL] [Abstract][Full Text] [Related]
24. Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.
Di Zanni E; Gradogna A; Scholz-Starke J; Boccaccio A
Cell Mol Life Sci; 2018 May; 75(9):1657-1670. PubMed ID: 29124309
[TBL] [Abstract][Full Text] [Related]
25. ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
Sandal S; Arora V; Verma IC
Congenit Anom (Kyoto); 2021 Jan; 61(1):25-26. PubMed ID: 32902009
[No Abstract] [Full Text] [Related]
26. Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.
Lv M; You G; Wang J; Fu Q; Gupta A; Li J; Sun J
J Hum Genet; 2019 Jul; 64(7):599-607. PubMed ID: 30996299
[TBL] [Abstract][Full Text] [Related]
27. Gnathodiaphyseal Dysplasia: Surgical Treatment and Prosthetic Rehabilitation of 2 Members of the Same Family.
Merlini A; Garibaldi J; Giorgis L; Balbi P
J Oral Maxillofac Surg; 2016 Dec; 74(12):2441-2446. PubMed ID: 27376179
[TBL] [Abstract][Full Text] [Related]
28. A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.
Han Y; Wang D; Guo J; Xiong Q; Li P; Zhou YA; Zhao B
Mol Genet Genomic Med; 2020 Sep; 8(9):e1366. PubMed ID: 32588564
[TBL] [Abstract][Full Text] [Related]
29. Gnathodiaphyseal dysplasia.
Ahluwalia J; Ly JQ; Norman E; Costello RF; Beall DP
Clin Imaging; 2007; 31(1):67-9. PubMed ID: 17189853
[TBL] [Abstract][Full Text] [Related]
30. COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.
Wang M; Guo Y; Rong P; Xu H; Gong L; Deng H; Yuan L
Mol Genet Genomic Med; 2019 May; 7(5):e619. PubMed ID: 30829463
[TBL] [Abstract][Full Text] [Related]
31. Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants.
Tüysüz B; Elkanova L; Uludağ Alkaya D; Güleç Ç; Toksoy G; Güneş N; Yazan H; Bayhan AI; Yıldırım T; Yeşil G; Uyguner ZO
Bone; 2022 Feb; 155():116293. PubMed ID: 34902613
[TBL] [Abstract][Full Text] [Related]
32. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).
Tsutsumi S; Kamata N; Vokes TJ; Maruoka Y; Nakakuki K; Enomoto S; Omura K; Amagasa T; Nagayama M; Saito-Ohara F; Inazawa J; Moritani M; Yamaoka T; Inoue H; Itakura M
Am J Hum Genet; 2004 Jun; 74(6):1255-61. PubMed ID: 15124103
[TBL] [Abstract][Full Text] [Related]
33. Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing.
Riminucci M; Collins MT; Corsi A; Boyde A; Murphey MD; Wientroub S; Kuznetsov SA; Cherman N; Robey PG; Bianco P
J Bone Miner Res; 2001 Sep; 16(9):1710-8. PubMed ID: 11547842
[TBL] [Abstract][Full Text] [Related]
34. Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
Tian X; Zhang X; Zhang Q; Chen X; Zhou B; Ma P; Zheng L; Hao S; Ling J; Zhang C; Hui L
Mol Genet Genomic Med; 2024 Jan; 12(1):e2308. PubMed ID: 38010033
[TBL] [Abstract][Full Text] [Related]
35. Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.
Niu Z; Lai Y; Zhou W; Liu L; Tan S; He G; Li J; Tang F; Su Y; Xu Y; Liu L; Xie L; Fang Q; Tang A
Mol Genet Genomic Med; 2022 Sep; 10(9):e2019. PubMed ID: 35855543
[TBL] [Abstract][Full Text] [Related]
36. Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
J Biomed Sci; 2018 Nov; 25(1):82. PubMed ID: 30447692
[TBL] [Abstract][Full Text] [Related]
37. Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Gauthier LW; Fontanges E; Chapurlat R; Collet C; Rossi M
Bone; 2024 Feb; 179():116953. PubMed ID: 37918503
[TBL] [Abstract][Full Text] [Related]
38. Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta.
Talebi F; Ghanbari Mardasi F; Javad MA; Amir Hooshang B; Masoumeh SK
Iran Biomed J; 2017 Sep; 21(5):338-41. PubMed ID: 28431466
[TBL] [Abstract][Full Text] [Related]
39. Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia.
Vengoechea J; Carpenter L
Am J Med Genet A; 2015 Jun; 167(6):1421-2. PubMed ID: 25866257
[No Abstract] [Full Text] [Related]
40. Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment.
Fiscaletti M; Biggin A; Bennetts B; Wong K; Briody J; Pacey V; Birman C; Munns CF
Bone; 2018 May; 110():66-75. PubMed ID: 29382611
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]