These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 8250152)

  • 1. Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.
    Dotti MT; Malandrini A; Bartolini S; Fabrizi GM; Federico A
    Brain Dev; 1993; 15(4):291-4. PubMed ID: 8250152
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-linked mental retardation with marfanoid habitus.
    Fryns JP; Buttiens M
    Am J Med Genet; 1987 Oct; 28(2):267-74. PubMed ID: 3322000
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
    Van Buggenhout G; Fryns JP
    Orphanet J Rare Dis; 2006 Jul; 1():26. PubMed ID: 16831221
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
    Hackmann K; Rump A; Haas SA; Lemke JR; Fryns JP; Tzschach A; Wieczorek D; Albrecht B; Kuechler A; Ripperger T; Kobelt A; Oexle K; Tinschert S; Schrock E; Kalscheuer VM; Di Donato N
    Am J Med Genet A; 2016 Jan; 170A(1):94-102. PubMed ID: 26358559
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
    Chevarin M; Duffourd Y; A Barnard R; Moutton S; Lecoquierre F; Daoud F; Kuentz P; Cabret C; Thevenon J; Gautier E; Callier P; St-Onge J; Jouan T; Lacombe D; Delrue MA; Goizet C; Morice-Picard F; Van-Gils J; Munnich A; Lyonnet S; Cormier-Daire V; Baujat G; Holder M; Petit F; Leheup B; Odent S; Jouk PS; Lopez G; Geneviève D; Collignon P; Martin-Coignard D; Jacquette A; Perrin L; Putoux A; Sarrazin E; Amarof K; Missotte I; Coubes C; Jagadeesh S; Lapi E; Demurger F; Goldenberg A; Doco-Fenzy M; Mignot C; Héron D; Jean-Marçais N; Masurel A; El Chehadeh S; Marle N; Huet F; Binquet C; Collod-Beroud G; Arnaud P; Hanna N; Boileau C; Jondeau G; Olaso R; Lechner D; Poe C; Assoum M; Carmignac V; Duplomb L; Tran Mau-Them F; Philippe C; Vitobello A; Bruel AL; Boland A; Deleuze JF; Thauvin-Robinet C; Rivière JB; O'Roak BJ; Faivre L
    J Med Genet; 2020 Jul; 57(7):466-474. PubMed ID: 32277047
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge.
    Mégarbané A; Chammas C
    Genet Couns; 1997; 8(3):195-200. PubMed ID: 9327261
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A form of X-linked mental retardation with marfanoid habitus.
    Lujan JE; Carlin ME; Lubs HA
    Am J Med Genet; 1984 Jan; 17(1):311-22. PubMed ID: 6711603
    [TBL] [Abstract][Full Text] [Related]  

  • 8. X-linked mental retardation with marfanoid habitus: first report of four Italian patients.
    Lalatta F; Livini E; Selicorni A; Briscioli V; Vita A; Lugo F; Zollino M; Gurrieri F; Neri G
    Am J Med Genet; 1991; 38(2-3):228-32. PubMed ID: 2018063
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?
    Fryns JP; Van Den Berghe H
    Genet Couns; 1991; 2(4):241-4. PubMed ID: 1799424
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.
    Lerma-Carrillo I; Molina JD; Cuevas-Duran T; Julve-Correcher C; Espejo-Saavedra JM; Andrade-Rosa C; Lopez-Muñoz F
    Am J Med Genet A; 2006 Dec; 140(24):2807-11. PubMed ID: 17036352
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors: new entity?
    Farah S; Sabry MA; al-Shubaili AF; Anim JT; Hussain JM; Montaser MA; Sharfuddin KM
    Clin Neurol Neurosurg; 1997 Feb; 99(1):66-70. PubMed ID: 9107473
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome.
    Battaglia A; Orsitto E; Gibilisco G
    Am J Med Genet; 1996 Mar; 62(3):230-2. PubMed ID: 8882779
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
    Raymond FL; Tarpey PS; Edkins S; Tofts C; O'Meara S; Teague J; Butler A; Stevens C; Barthorpe S; Buck G; Cole J; Dicks E; Gray K; Halliday K; Hills K; Hinton J; Jones D; Menzies A; Perry J; Raine K; Shepherd R; Small A; Varian J; Widaa S; Mallya U; Moon J; Luo Y; Shaw M; Boyle J; Kerr B; Turner G; Quarrell O; Cole T; Easton DF; Wooster R; Bobrow M; Schwartz CE; Gecz J; Stratton MR; Futreal PA
    Am J Hum Genet; 2007 May; 80(5):982-7. PubMed ID: 17436253
    [TBL] [Abstract][Full Text] [Related]  

  • 14. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.
    Adès LC; Sullivan K; Biggin A; Haan EA; Brett M; Holman KJ; Dixon J; Robertson S; Holmes AD; Rogers J; Bennetts B
    Am J Med Genet A; 2006 May; 140(10):1047-58. PubMed ID: 16596670
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.
    Lacombe D; Bonneau D; Verloes A; Couet D; Koulischer L; Battin J
    Genet Couns; 1993; 4(3):193-8. PubMed ID: 8267926
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial myopathy associated with Marfanoid features and multicores.
    Joyce DA; Mastaglia FL; Ojeda VJ; Spagnolo DV
    Aust N Z J Med; 1984 Aug; 14(4):495-9. PubMed ID: 6596064
    [TBL] [Abstract][Full Text] [Related]  

  • 17. X-linked mental retardation with marfanoid habitus.
    Fryns JP
    Am J Med Genet; 1991; 38(2-3):233. PubMed ID: 2018064
    [No Abstract]   [Full Text] [Related]  

  • 18. Ectopia lentis phenotypes and the FBN1 gene.
    Adès LC; Holman KJ; Brett MS; Edwards MJ; Bennetts B
    Am J Med Genet A; 2004 Apr; 126A(3):284-9. PubMed ID: 15054843
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E; Brussino A; Biamino E; Belligni EF; Bruselles A; Ciolfi A; Caputo V; Pizzi S; Calcia A; Di Gregorio E; Cavalieri S; Mancini C; Pozzi E; Ferrero M; Riberi E; Borelli I; Amoroso A; Ferrero GB; Tartaglia M; Brusco A
    Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
    Callier P; Aral B; Hanna N; Lambert S; Dindy H; Ragon C; Payet M; Collod-Beroud G; Carmignac V; Delrue MA; Goizet C; Philip N; Busa T; Dulac Y; Missotte I; Sznajer Y; Toutain A; Francannet C; Megarbane A; Julia S; Edouard T; Sarda P; Amiel J; Lyonnet S; Cormier-Daire V; Gilbert B; Jacquette A; Heron D; Collignon P; Lacombe D; Morice-Picard F; Jouk PS; Cusin V; Willems M; Sarrazin E; Amarof K; Coubes C; Addor MC; Journel H; Colin E; Khau Van Kien P; Baumann C; Leheup B; Martin-Coignard D; Doco-Fenzy M; Goldenberg A; Plessis G; Thevenon J; Pasquier L; Odent S; Vabres P; Huet F; Marle N; Mosca-Boidron AL; Mugneret F; Gauthier S; Binquet C; Thauvin-Robinet C; Jondeau G; Boileau C; Faivre L
    Clin Genet; 2013 Dec; 84(6):507-21. PubMed ID: 23506379
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.