205 related articles for article (PubMed ID: 31196143)
21. Novel Splicing Mutation in
Bloor S; Giri D; Didi M; Senniappan S
Case Rep Genet; 2017; 2017():3941483. PubMed ID: 29318063
[No Abstract] [Full Text] [Related]
22. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Arunrut T; Sabbadini M; Jain M; Machol K; Scaglia F; Slavotinek A
Am J Med Genet A; 2016 Oct; 170(10):2711-8. PubMed ID: 27320698
[TBL] [Abstract][Full Text] [Related]
23. CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Mizumoto S; Janecke AR; Sadeghpour A; Povysil G; McDonald MT; Unger S; Greber-Platzer S; Deak KL; Katsanis N; Superti-Furga A; Sugahara K; Davis EE; Yamada S; Vodopiutz J
Hum Mutat; 2020 Mar; 41(3):655-667. PubMed ID: 31705726
[TBL] [Abstract][Full Text] [Related]
24. Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J; Mizumoto S; Lausch E; Rossi A; Unger S; Janocha N; Costantini R; Seidl R; Greber-Platzer S; Yamada S; Müller T; Jilma B; Ganger R; Superti-Furga A; Ikegawa S; Sugahara K; Janecke AR
Hum Mutat; 2017 Jan; 38(1):34-38. PubMed ID: 27599773
[TBL] [Abstract][Full Text] [Related]
25. A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
Faiyaz-Ul-Haque M; Zaidi SH; Al-Sanna N; Alswaid A; Momenah T; Kaya N; Al-Dayel F; Bouhoaigah I; Saliem M; Tsui LC; Teebi AS
Atherosclerosis; 2009 Apr; 203(2):466-71. PubMed ID: 18774132
[TBL] [Abstract][Full Text] [Related]
26. R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
Bökenkamp A; deJong M; van Wijk JA; Block D; van Hagen JM; Ludwig M
Pediatr Nephrol; 2005 Dec; 20(12):1724-8. PubMed ID: 16237566
[TBL] [Abstract][Full Text] [Related]
27. Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.
Lv F; Xu X; Song Y; Li L; Asan ; Wang J; Yang H; Wang O; Jiang Y; Xia W; Xing X; Li M
Calcif Tissue Int; 2018 Mar; 102(3):296-309. PubMed ID: 29177700
[TBL] [Abstract][Full Text] [Related]
28. Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
Hocking LJ; Lucas GJ; Daroszewska A; Cundy T; Nicholson GC; Donath J; Walsh JP; Finlayson C; Cavey JR; Ciani B; Sheppard PW; Searle MS; Layfield R; Ralston SH
J Bone Miner Res; 2004 Jul; 19(7):1122-7. PubMed ID: 15176995
[TBL] [Abstract][Full Text] [Related]
29. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Garg A; Cogulu O; Ozkinay F; Onay H; Agarwal AK
J Clin Endocrinol Metab; 2005 Sep; 90(9):5259-64. PubMed ID: 15998779
[TBL] [Abstract][Full Text] [Related]
30. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.
Girisha KM; Bidchol AM; Graul-Neumann L; Gupta A; Hehr U; Lessel D; Nader S; Shah H; Wickert J; Kutsche K
BMC Med Genet; 2016 Apr; 17():27. PubMed ID: 27048506
[TBL] [Abstract][Full Text] [Related]
31. Consequences of mutations within the C terminus of the FHL1 gene.
Schoser B; Goebel HH; Janisch I; Quasthoff S; Rother J; Bergmann M; Müller-Felber W; Windpassinger C
Neurology; 2009 Aug; 73(7):543-51. PubMed ID: 19687455
[TBL] [Abstract][Full Text] [Related]
32. Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A; Simsek-Kiper PÖ; Mizumoto S; Hoshino T; Elcioglu N; Horemuzova E; Geiberger S; Yesil G; Kayserili H; Utine GE; Boduroglu K; Watanabe S; Ohashi H; Alanay Y; Sugahara K; Nishimura G; Ikegawa S
Hum Mutat; 2013 Oct; 34(10):1381-6. PubMed ID: 23824674
[TBL] [Abstract][Full Text] [Related]
33. Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
Li LJ; Lyu F; Song YW; Wang O; Jiang Y; Xia WB; Xing XP; Li M
Chin Med J (Engl); 2019 Jan; 132(2):145-153. PubMed ID: 30614853
[TBL] [Abstract][Full Text] [Related]
34. Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.
Paganini C; Costantini R; Superti-Furga A; Rossi A
FEBS J; 2019 Aug; 286(15):3008-3032. PubMed ID: 31286677
[TBL] [Abstract][Full Text] [Related]
35. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
36. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.
Chong B; Hegde M; Fawkner M; Simonet S; Cassinelli H; Coker M; Kanis J; Seidel J; Tau C; Tüysüz B; Yüksel B; Love D;
J Bone Miner Res; 2003 Dec; 18(12):2095-104. PubMed ID: 14672344
[TBL] [Abstract][Full Text] [Related]
37. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Thauvin-Robinet C; Cossée M; Cormier-Daire V; Van Maldergem L; Toutain A; Alembik Y; Bieth E; Layet V; Parent P; David A; Goldenberg A; Mortier G; Héron D; Sagot P; Bouvier AM; Huet F; Cusin V; Donzel A; Devys D; Teyssier JR; Faivre L
J Med Genet; 2006 Jan; 43(1):54-61. PubMed ID: 16397067
[TBL] [Abstract][Full Text] [Related]
38. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
Srivastava P; Tuteja M; Dalal A; Mandal K; R Phadke S
J Genet; 2016 Dec; 95(4):905-909. PubMed ID: 27994189
[TBL] [Abstract][Full Text] [Related]
39. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW; Luk HM; Chu YWY; Tung YL; Kwan EY; Lo IF; Chung BH
Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498
[TBL] [Abstract][Full Text] [Related]
40. Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
Reuter MS; Schwabe GC; Ehlers C; Marschall C; Reis A; Thiel C; Graul-Neumann L
Eur J Med Genet; 2013 Dec; 56(12):669-73. PubMed ID: 24140640
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
