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Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1568 - 1575
Purpose: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de... 
de novo variant | COL3A1 | vascular Ehlers–Danlos syndrome | mosaicism | deep targeted next-generation sequencing | ALLELE | SUBSTITUTION | GENE | GENETICS & HEREDITY | MUTATIONS | vascular Ehlers-Danlos syndrome | SYNDROME TYPE-IV | FAMILY | Deoxyribonucleic acid--DNA | Genetic counseling | Index Medicus
Journal Article
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, ISSN 0735-1097, 04/2019, Volume 73, Issue 15, pp. 1948 - 1957
Journal Article
Circulation. Genomic and precision medicine, 03/2019, Volume 12, Issue 3, p. e001996
Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of vascular... 
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 04/2019, Volume 73, Issue 15, pp. 1948 - 1957
Journal Article
Blood, ISSN 0006-4971, 08/2018, Volume 132, Issue 5, pp. 469 - 483
Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p. Arg200Trp mutation in the von Hippel-Lindau (VHL) gene.... 
CONGENITAL ERYTHROCYTOSIS | VARIANTS | PRODUCT | TUMOR-SUPPRESSOR GENE | CHUVASH POLYCYTHEMIA | MUTATIONS | HEMATOLOGY | CANCER | EXPRESSION | Index Medicus | Abridged Index Medicus | Life Sciences | Hematology | Human health and pathology
Journal Article
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 02/1997, Volume 54, Issue 2, p. 125
BackgroundGermline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal... 
Journal Article
CIRCULATION-GENOMIC AND PRECISION MEDICINE, ISSN 2574-8300, 03/2019, Volume 12, Issue 3, pp. e001996 - e001996
BACKGROUND: Vascular Ehlers-Danlos syndrome is a rare inherited connective tissue disease secondary to mutations within the COL3A1 gene. The diagnosis of... 
CARDIAC & CARDIOVASCULAR SYSTEMS | Ehlers-Danlos syndrome | vascular disease | genetic testing | GENETICS & HEREDITY | diagnosis | patient selection
Journal Article
by Thomas, H.S and Weiser, T.G and Drake, T.M and Knight, S.R and Fairfield, C and Ademuyiwa, A.O and Aguilera, M.L and Alexander, P and Al-Saqqa, S.W and Borda-Luque, G and Costas-Chavarri, A and Ntirenganya, F and Fitzgerald, J.E and Fergusson, S.J and Glasbey, J and Ingabire, J.C.A and Ismaïl, L and Salem, H.K and Kojo, A.T.T and Lapitan, M.C and Lilford, R and Mihaljevic, A.L and Morton, D and Mutabazi, A.Z and Nepogodiev, D and Adisa, A.O and Ots, R and Pata, F and Pinkney, T and Qureshi, A.U and la Medina, A.R and Rayne, S and Shaw, C.A and Shu, S and Spence, R and Smart, N and Tabiri, S and Bhangu, A and Harrison, E.M and Verjee, A and Runigamugabo, E and Altamini, A and Cornick, J and Jaffry, Z and Khatri, C and Kirby, A and Mohan, M and Recinos, G and Søreide, K and Gobin, N and Freitas, A.V and Hall, N and Kim, S.H and Negida, A and Khairy, H and Chapman, S.J and Arnaud, A.P and Manipal, C.E and Amandito, R and Shawki, M and Hanrahan, M and Zilinskas, J and Roslani, A.C and Goh, C.C and Irwin, G and Luque, L and Shiwani, H and Altamimi, A and Alsaggaf, M.U and Jeyakumar, J and Cengiz, Y and Raptis, D.A and Glasbey, J.C and Modolo, M.M and Iyer, D and King, S and Arthur, T and Nahar, S.N and Waterman, A and Walsh, L.I and Agarwal, A and Zani, A and Firdouse, M and Rouse, T and Liu, Q and Correa, J.C and Talving, P and Worku, M and Arnaud, A and Kalles, V and Kumar, B and Kumar, S and Quek, R and Ansaloni, L and Altibi, A and Venskutonis, D and Poskus, T and Whitaker, J and Msosa, V and Tew, Y.Y and ... and GlobalSurg Collaborative
British Journal of Surgery, ISSN 0007-1323, 01/2019, Volume 106, Issue 2, pp. e103 - e112
Journal Article