189 related articles for article (PubMed ID: 35903967)
21. Joint hypermobility and genetic collagen disorders: are they related?
Grahame R
Arch Dis Child; 1999 Feb; 80(2):188-91. PubMed ID: 10325741
[TBL] [Abstract][Full Text] [Related]
22. Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.
Haller G; Alvarado DM; Willing MC; Braverman AC; Bridwell KH; Kelly M; Lenke LG; Luhmann SJ; Gurnett CA; Dobbs MB
J Bone Joint Surg Am; 2015 Sep; 97(17):1411-7. PubMed ID: 26333736
[TBL] [Abstract][Full Text] [Related]
23. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S; Micale L; Ritelli M; Rohrbach M; Zoppi N; Vandersteen A; Mackay S; Agolini E; Cocciadiferro D; Sasaki E; Madeo A; Ferraris A; Reardon W; Di Rocco M; Novelli A; Grammatico P; Malfait F; Mazza T; Hakim A; Giunta C; Colombi M; Castori M
Clin Genet; 2020 Mar; 97(3):396-406. PubMed ID: 31794058
[TBL] [Abstract][Full Text] [Related]
24. [Polymorphism of clinical symptoms of connective tissue dysplasia syndrome].
Makolkin VI; Podzolkov VI; Rodionov AV; Sheianov MV; Samoĭlenko VV; Napalkov DA
Ter Arkh; 2004; 76(11):77-80. PubMed ID: 15658545
[No Abstract] [Full Text] [Related]
25. The Genetics of Soft Connective Tissue Disorders.
Vanakker O; Callewaert B; Malfait F; Coucke P
Annu Rev Genomics Hum Genet; 2015; 16():229-55. PubMed ID: 26002060
[TBL] [Abstract][Full Text] [Related]
26. The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F; Francomano C; Byers P; Belmont J; Berglund B; Black J; Bloom L; Bowen JM; Brady AF; Burrows NP; Castori M; Cohen H; Colombi M; Demirdas S; De Backer J; De Paepe A; Fournel-Gigleux S; Frank M; Ghali N; Giunta C; Grahame R; Hakim A; Jeunemaitre X; Johnson D; Juul-Kristensen B; Kapferer-Seebacher I; Kazkaz H; Kosho T; Lavallee ME; Levy H; Mendoza-Londono R; Pepin M; Pope FM; Reinstein E; Robert L; Rohrbach M; Sanders L; Sobey GJ; Van Damme T; Vandersteen A; van Mourik C; Voermans N; Wheeldon N; Zschocke J; Tinkle B
Am J Med Genet C Semin Med Genet; 2017 Mar; 175(1):8-26. PubMed ID: 28306229
[TBL] [Abstract][Full Text] [Related]
27. Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Yagi H; Takeda N; Amiya E; Akiyama N; Chang H; Ishiura H; Sato J; Akazawa H; Morita H; Komuro I
Am J Med Genet A; 2022 Sep; 188(9):2777-2782. PubMed ID: 35543214
[TBL] [Abstract][Full Text] [Related]
28. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali N; Baker D; Brady AF; Burrows N; Cervi E; Cilliers D; Frank M; Germain DP; Hulmes DJS; Jacquemont ML; Kannu P; Lefroy H; Legrand A; Pope FM; Robertson L; Vandersteen A; von Klemperer K; Warburton R; Whiteford M; van Dijk FS
Genet Med; 2019 Sep; 21(9):2081-2091. PubMed ID: 30837697
[TBL] [Abstract][Full Text] [Related]
29. Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder.
Piedimonte C; Penge R; Morlino S; Sperduti I; Terzani A; Giannini MT; Colombi M; Grammatico P; Cardona F; Castori M
Am J Med Genet B Neuropsychiatr Genet; 2018 Sep; 177(6):546-556. PubMed ID: 30070022
[TBL] [Abstract][Full Text] [Related]
30. Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C; Brady AF; Pope FM; Vandersteen A; Baker D; Cheema H; Sobey G; Johnson D; von Klemperer K; Kazkaz H; van Dijk F; Ghali N
J Med Genet; 2020 Nov; 57(11):769-776. PubMed ID: 32467296
[TBL] [Abstract][Full Text] [Related]
31. Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization.
Bascom R; Schubart JR; Mills S; Smith T; Zukley LM; Francomano CA; McDonnell N
Am J Med Genet A; 2019 Apr; 179(4):552-560. PubMed ID: 30706611
[TBL] [Abstract][Full Text] [Related]
32. Neurovascular manifestations of heritable connective tissue disorders. A review.
Schievink WI; Michels VV; Piepgras DG
Stroke; 1994 Apr; 25(4):889-903. PubMed ID: 8160237
[TBL] [Abstract][Full Text] [Related]
33. Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene.
Al-Harbi TM; Al-Rammah H; Al-Zahrani N; Liu Y; Sleiman PMA; Dridi W; Hakonarson H
Am J Med Genet A; 2022 Feb; 188(2):618-623. PubMed ID: 34636138
[TBL] [Abstract][Full Text] [Related]
34. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM; Al-Qattan SM; Faqeih E; Alhashem A; Alshammari M; Alzahrani F; Al-Dosari MS; Patel N; Alsagheir A; Binabbas B; Alzaidan H; Alsiddiky A; Alharbi N; Alfadhel M; Kentab A; Daza RM; Kircher M; Shendure J; Hashem M; Alshahrani S; Rahbeeni Z; Khalifa O; Shaheen R; Alkuraya FS
Hum Genet; 2016 May; 135(5):525-540. PubMed ID: 27023906
[TBL] [Abstract][Full Text] [Related]
35. Defects in the biochemistry of collagen in diseases of connective tissue.
Uitto J; Lichtenstein JR
J Invest Dermatol; 1976 Feb; 66(02):59-79. PubMed ID: 1448
[TBL] [Abstract][Full Text] [Related]
36. Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.
Chesneau B; Plancke A; Rolland G; Chassaing N; Coubes C; Brischoux-Boucher E; Edouard T; Dulac Y; Aubert-Mucca M; Lavabre-Bertrand T; Plaisancié J; Khau Van Kien P
Eur J Hum Genet; 2021 May; 29(5):771-779. PubMed ID: 33414558
[TBL] [Abstract][Full Text] [Related]
37. Genetics of inherited defects of connective tissue.
Pope FM
Baillieres Clin Rheumatol; 1988 Dec; 2(3):673-702. PubMed ID: 3067868
[No Abstract] [Full Text] [Related]
38. Heritable disorders of connective tissue.
Grahame R
Baillieres Best Pract Res Clin Rheumatol; 2000 Jun; 14(2):345-61. PubMed ID: 10925749
[TBL] [Abstract][Full Text] [Related]
39. Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM; Weerakkody RA; Parry DA; Kanonidou C; Toddie-Moore DJ; Vandrovcova J; Darlay R; Santoyo-Lopez J; Meynert A; ; Kazkaz H; Grahame R; Cummings C; Bartlett M; Ghali N; Brady AF; Pope FM; van Dijk FS; Cordell HJ; Aitman TJ
J Med Genet; 2024 Feb; 61(3):232-238. PubMed ID: 37813462
[TBL] [Abstract][Full Text] [Related]
40. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
Ritelli M; Cinquina V; Venturini M; Colombi M
Mol Genet Genomic Med; 2020 Oct; 8(10):e1422. PubMed ID: 32720758
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
