BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 22353940)

  • 1. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
    Field M; Scheffer IE; Gill D; Wilson M; Christie L; Shaw M; Gardner A; Glubb G; Hobson L; Corbett M; Friend K; Willis-Owen S; Gecz J
    Eur J Hum Genet; 2012 Jul; 20(7):806-9. PubMed ID: 22353940
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
    Zhang K; Meng C; Ma J; Gao M; Lv Y; Liu Y; Gai Z
    Clin Dysmorphol; 2017 Jul; 26(3):135-141. PubMed ID: 28505061
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
    Tsurusaki Y; Kosho T; Hatasaki K; Narumi Y; Wakui K; Fukushima Y; Doi H; Saitsu H; Miyake N; Matsumoto N
    Clin Genet; 2013 Feb; 83(2):135-44. PubMed ID: 22548404
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Truncating mutations in exons 20 and 21 of
    Bukowy-Bieryllo Z; Rabiasz A; Dabrowski M; Pogorzelski A; Wojda A; Dmenska H; Grzela K; Sroczynski J; Witt M; Zietkiewicz E
    J Med Genet; 2019 Nov; 56(11):769-777. PubMed ID: 31366608
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in
    Linpeng S; Liu J; Pan J; Cao Y; Teng Y; Liang D; Li Z; Wu L
    Biomed Res Int; 2018; 2018():4032543. PubMed ID: 30581852
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
    Bisschoff IJ; Zeschnigk C; Horn D; Wellek B; Rieß A; Wessels M; Willems P; Jensen P; Busche A; Bekkebraten J; Chopra M; Hove HD; Evers C; Heimdal K; Kaiser AS; Kunstmann E; Robinson KL; Linné M; Martin P; McGrath J; Pradel W; Prescott KE; Roesler B; Rudolf G; Siebers-Renelt U; Tyshchenko N; Wieczorek D; Wolff G; Dobyns WB; Morris-Rosendahl DJ
    Hum Mutat; 2013 Jan; 34(1):237-47. PubMed ID: 23033313
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
    Thauvin-Robinet C; Thomas S; Sinico M; Aral B; Burglen L; Gigot N; Dollfus H; Rossignol S; Raynaud M; Philippe C; Badens C; Touraine R; Gomes C; Franco B; Lopez E; Elkhartoufi N; Faivre L; Munnich A; Boddaert N; Van Maldergem L; Encha-Razavi F; Lyonnet S; Vekemans M; Escudier E; Attié-Bitach T
    Clin Genet; 2013 Jul; 84(1):86-90. PubMed ID: 23036093
    [No Abstract]   [Full Text] [Related]  

  • 9. Clinical spectrum of male patients with OFD1 mutations.
    Sakakibara N; Morisada N; Nozu K; Nagatani K; Ohta T; Shimizu J; Wada T; Shima Y; Yamamura T; Minamikawa S; Fujimura J; Horinouchi T; Nagano C; Shono A; Ye MJ; Nozu Y; Nakanishi K; Iijima K
    J Hum Genet; 2019 Jan; 64(1):3-9. PubMed ID: 30401917
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
    Aljeaid D; Lombardo RC; Witte DP; Hopkin RJ
    Am J Med Genet A; 2019 Jun; 179(6):1010-1014. PubMed ID: 30895720
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation].
    Meng C; Zhang KH; Ma J; Gao X; Yu K; Zhang HY; Wang Y; Zhang ZX; Li WG; Liu Y; Gai ZT
    Zhonghua Er Ke Za Zhi; 2017 Feb; 55(2):131-134. PubMed ID: 28173652
    [No Abstract]   [Full Text] [Related]  

  • 12. Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
    Morisawa T; Yagi M; Surono A; Yokoyama N; Ohmori M; Terashi H; Matsuo M
    Hum Genet; 2004 Jul; 115(2):97-103. PubMed ID: 15221448
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.
    Shimojima K; Shimada S; Sugawara M; Yoshikawa N; Niijima S; Urao M; Yamamoto T
    Congenit Anom (Kyoto); 2013 Dec; 53(4):155-9. PubMed ID: 24712474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.
    Diz P; Alvarez-Iglesias V; Feijoo JF; Limeres J; Seoane J; Tomás I; Carracedo A
    Oral Dis; 2011 Sep; 17(6):610-4. PubMed ID: 21729220
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
    Thauvin-Robinet C; Franco B; Saugier-Veber P; Aral B; Gigot N; Donzel A; Van Maldergem L; Bieth E; Layet V; Mathieu M; Teebi A; Lespinasse J; Callier P; Mugneret F; Masurel-Paulet A; Gautier E; Huet F; Teyssier JR; Tosi M; Frébourg T; Faivre L
    Hum Mutat; 2009 Feb; 30(2):E320-9. PubMed ID: 19023858
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.
    Gangaram B; Devine WP; Slavotinek A
    Eur J Med Genet; 2022 Jun; 65(6):104496. PubMed ID: 35398350
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.
    Iijima T; Hayami N; Takaichi K; Morisada N; Nozu K; Iijima K; Sawa N; Hoshino J; Ubara Y
    Intern Med; 2019 Oct; 58(20):2989-2992. PubMed ID: 31243241
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Indian child with novel variant in OFD1 gene.
    Panigrahi I; Ahuja C; Chaudhry C
    Am J Med Genet A; 2020 Oct; 182(10):2236-2238. PubMed ID: 32677760
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
    Hannah WB; DeBrosse S; Kinghorn B; Strausbaugh S; Aitken ML; Rosenfeld M; Wolf WE; Knowles MR; Zariwala MA
    Mol Genet Genomic Med; 2019 Sep; 7(9):e911. PubMed ID: 31373179
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A; Piton A; Chancenotte S; Redin C; Thauvin-Robinet C; Henrenger Y; Minot D; Creppy A; Ruffier-Bourdet M; Thevenon J; Kuentz P; Lehalle D; Curie A; Blanchard G; Ghosn E; Bonnet M; Archimbaud-Devilliers M; Huet F; Perret O; Philip N; Mandel JL; Faivre L
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.