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 *

168 related articles for article (PubMed ID: 16691600)

  • 1. The FG syndrome: report of a large Italian series.
    Battaglia A; Chines C; Carey JC
    Am J Med Genet A; 2006 Oct; 140(19):2075-9. PubMed ID: 16691600
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and behavioral characteristics in FG syndrome.
    Graham JM; Superneau D; Rogers RC; Corning K; Schwartz CE; Dykens EM
    Am J Med Genet; 1999 Aug; 85(5):470-5. PubMed ID: 10405444
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
    Lyons MJ; Graham JM; Neri G; Hunter AG; Clark RD; Rogers RC; Moscarda M; Boccuto L; Simensen R; Dodd J; Robertson S; DuPont BR; Friez MJ; Schwartz CE; Stevenson RE
    J Med Genet; 2009 Jan; 46(1):9-13. PubMed ID: 18805826
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
    Graham JM; Clark RD; Moeschler JB; Rogers RC
    Am J Med Genet C Semin Med Genet; 2010 Nov; 154C(4):477-85. PubMed ID: 20981778
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genitourinary anomalies of pediatric FG syndrome.
    Smith JF; Wayment RO; Cartwright PC; Snow BW; Opitz JM
    J Urol; 2007 Aug; 178(2):656-9. PubMed ID: 17574621
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further delineation of the
    Miguet M; Faivre L; Amiel J; Nizon M; Touraine R; Prieur F; Pasquier L; Lefebvre M; Thevenon J; Dubourg C; Julia S; Sarret C; Remerand G; Francannet C; Laffargue F; Boespflug-Tanguy O; David A; Isidor B; Vigneron J; Leheup B; Lambert L; Philippe C; Béri-Dexheimer M; Cuisset JM; Andrieux J; Plessis G; Toutain A; Guibaud L; Cormier-Daire V; Rio M; Bonnefont JP; Echenne B; Journel H; Burglen L; Chantot-Bastaraud S; Bienvenu T; Baumann C; Perrin L; Drunat S; Jouk PS; Dieterich K; Devillard F; Lacombe D; Philip N; Sigaudy S; Moncla A; Missirian C; Badens C; Perreton N; Thauvin-Robinet C; AChro-Puce R; Pedespan JM; Rooryck C; Goizet C; Vincent-Delorme C; Duban-Bedu B; Bahi-Buisson N; Afenjar A; Maincent K; Héron D; Alessandri JL; Martin-Coignard D; Lesca G; Rossi M; Raynaud M; Callier P; Mosca-Boidron AL; Marle N; Coutton C; Satre V; Caignec CL; Malan V; Romana S; Keren B; Tabet AC; Kremer V; Scheidecker S; Vigouroux A; Lackmy-Port-Lis M; Sanlaville D; Till M; Carneiro M; Gilbert-Dussardier B; Willems M; Van Esch H; Portes VD; El Chehadeh S
    J Med Genet; 2018 Jun; 55(6):359-371. PubMed ID: 29618507
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
    Graham JM; Visootsak J; Dykens E; Huddleston L; Clark RD; Jones KL; Moeschler JB; Opitz JM; Morford J; Simensen R; Rogers RC; Schwartz CE; Friez MJ; Stevenson RE
    Am J Med Genet A; 2008 Dec; 146A(23):3011-7. PubMed ID: 18973276
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
    Rubinato E; Rondeau S; Giuliano F; Kossorotoff M; Parodi M; Gherbi S; Steffan J; Jonard L; Marlin S
    Eur J Med Genet; 2020 Mar; 63(3):103768. PubMed ID: 31536828
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
    Lesca G; Moizard MP; Bussy G; Boggio D; Hu H; Haas SA; Ropers HH; Kalscheuer VM; Des Portes V; Labalme A; Sanlaville D; Edery P; Raynaud M; Lespinasse J
    Am J Med Genet A; 2013 Dec; 161A(12):3063-71. PubMed ID: 24039113
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
    Myers KA; Mandelstam SA; Ramantani G; Rushing EJ; de Vries BB; Koolen DA; Scheffer IE
    Epilepsia; 2017 Jun; 58(6):1085-1094. PubMed ID: 28440867
    [TBL] [Abstract][Full Text] [Related]  

  • 11. FG syndrome update 1988: note of 5 new patients and bibliography.
    Opitz JM; Richieri-da Costa A; Aase JM; Benke PJ
    Am J Med Genet; 1988; 30(1-2):309-28. PubMed ID: 3052062
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.
    Jonas RE; Kimonis VE; Morales A
    Am J Med Genet; 1997 Dec; 73(2):184-8. PubMed ID: 9409870
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel variant in MED12 gene: Further delineation of phenotype.
    Narayanan DL; Phadke SR
    Am J Med Genet A; 2017 Aug; 173(8):2257-2260. PubMed ID: 28544239
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A clinical follow-up of British patients with FG syndrome.
    Romano C; Baraitser M; Thompson E
    Clin Dysmorphol; 1994 Apr; 3(2):104-14. PubMed ID: 8055129
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenotypic spectrum and management issues in Kabuki syndrome.
    Kawame H; Hannibal MC; Hudgins L; Pagon RA
    J Pediatr; 1999 Apr; 134(4):480-5. PubMed ID: 10190924
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.
    Remerand G; Boespflug-Tanguy O; Tonduti D; Touraine R; Rodriguez D; Curie A; Perreton N; Des Portes V; Sarret C;
    Dev Med Child Neurol; 2019 Dec; 61(12):1439-1447. PubMed ID: 31410843
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
    Schwartz CE; Tarpey PS; Lubs HA; Verloes A; May MM; Risheg H; Friez MJ; Futreal PA; Edkins S; Teague J; Briault S; Skinner C; Bauer-Carlin A; Simensen RJ; Joseph SM; Jones JR; Gecz J; Stratton MR; Raymond FL; Stevenson RE
    J Med Genet; 2007 Jul; 44(7):472-7. PubMed ID: 17369503
    [TBL] [Abstract][Full Text] [Related]  

  • 18. FOXP1 mutations cause intellectual disability and a recognizable phenotype.
    Le Fevre AK; Taylor S; Malek NH; Horn D; Carr CW; Abdul-Rahman OA; O'Donnell S; Burgess T; Shaw M; Gecz J; Bain N; Fagan K; Hunter MF
    Am J Med Genet A; 2013 Dec; 161A(12):3166-75. PubMed ID: 24214399
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A missense mutation in CASK causes FG syndrome in an Italian family.
    Piluso G; D'Amico F; Saccone V; Bismuto E; Rotundo IL; Di Domenico M; Aurino S; Schwartz CE; Neri G; Nigro V
    Am J Hum Genet; 2009 Feb; 84(2):162-77. PubMed ID: 19200522
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.
    Grubben C; de Cock P; Borghgraef M; van den Berghe H; Fryns JP
    Clin Genet; 1992 Jan; 41(1):16-21. PubMed ID: 1378778
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.