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 *

108 related articles for article (PubMed ID: 17351347)

  • 21. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.
    Alessandri L; Brayer C; Attali T; Samperiz S; Tiran-Rajaofera I; Ramful D; Pilorget H
    Genet Couns; 2005; 16(4):363-70. PubMed ID: 16440878
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The orocraniodigital syndrome of Juberg and Hayward.
    Verloes A; Le Merrer M; Davin JC; Wittamer P; Abrassart C; Bricteux G; Briard ML
    J Med Genet; 1992 Apr; 29(4):262-5. PubMed ID: 1583649
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
    Ranta S; Lehesjoki AE; Hirvasniemi A; Weissenbach J; Ross B; Leal SM; de la Chapelle A; Gilliam TC
    Genome Res; 1996 May; 6(5):351-60. PubMed ID: 8743986
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
    Orstavik KH; Strømme P; Ek J; Torvik A; Skjeldal OH
    J Med Genet; 1997 Oct; 34(10):849-51. PubMed ID: 9350820
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant.
    McGoey RR; Lacassie Y
    Am J Med Genet A; 2008 Feb; 146A(4):488-91. PubMed ID: 18203152
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.
    Orstavik KH; Bechensteen AG; Fugelseth D; Orderud W
    Am J Med Genet; 1998 Jan; 75(3):300-3. PubMed ID: 9475602
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Distinct phenotype of PHF6 deletions in females.
    Di Donato N; Isidor B; Lopez Cazaux S; Le Caignec C; Klink B; Kraus C; Schrock E; Hackmann K
    Eur J Med Genet; 2014 Feb; 57(2-3):85-9. PubMed ID: 24380767
    [TBL] [Abstract][Full Text] [Related]  

  • 28. DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome in one of the twins after conception with intracytoplasmic sperm injection.
    Mihci E; Guney K; Velipasaoglu S
    Am J Med Genet A; 2008 Jun; 146A(11):1483-5. PubMed ID: 18438887
    [No Abstract]   [Full Text] [Related]  

  • 29. Autosomal recessive sensorineural-conductive deafness, mental retardation, and pinna anomalies.
    Cantú JM; Ruenes R; García-Cruz D
    Hum Genet; 1978 Jan; 40(2):231-4. PubMed ID: 624552
    [TBL] [Abstract][Full Text] [Related]  

  • 30. The Coffin-Siris syndrome: report of a family and further delineation.
    Haspeslagh M; Fryns JP; van den Berghe H
    Clin Genet; 1984 Oct; 26(4):374-8. PubMed ID: 6499251
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4.
    Hedera P; Alvarado D; Beydoun A; Fink JK
    Ann Neurol; 2002 Jan; 51(1):45-50. PubMed ID: 11782983
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome: a new case report from Indonesia and review of the literature.
    Danarti R; Rahmayani S; Wirohadidjojo YW; Chen W
    Eur J Dermatol; 2020 Aug; 30(4):404-407. PubMed ID: 32969800
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two Siblings with Kaufman Oculocerebrofacial Syndrome Resembling Oculoauriculovertebral Spectrum.
    Ürel-Demir G; Aydın B; Karaosmanoğlu B; Akgün-Doğan Ö; Taşkıran EZ; Şimşek-Kiper PÖ; Utine GE; Boduroğlu K
    Mol Syndromol; 2021 Apr; 12(2):106-111. PubMed ID: 34012380
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Candidate region for Coffin-Siris syndrome at 7q32-->34.
    McGhee EM; Klump CJ; Bitts SM; Cotter PD; Lammer EJ
    Am J Med Genet; 2000 Jul; 93(3):241-3. PubMed ID: 10925390
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.
    Bonioli E; Palmieri A; Bertola A; Bellini C
    Genet Couns; 1995; 6(4):309-12. PubMed ID: 8775417
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.
    Fleck BJ; Pandya A; Vanner L; Kerkering K; Bodurtha J
    Am J Med Genet; 2001 Feb; 99(1):1-7. PubMed ID: 11170086
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Wieczorek D; Shaw-Smith C; Kohlhase J; Schmitt W; Buiting K; Coffey A; Howard E; Hehr U; Gillessen-Kaesbach G
    Am J Med Genet A; 2007 Jun; 143A(11):1135-42. PubMed ID: 17497718
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency.
    Aguilar L; Lisker R; Hernández-Peniche J; Martínez-Villar C
    Clin Genet; 1978 Feb; 13(2):154-8. PubMed ID: 627106
    [TBL] [Abstract][Full Text] [Related]  

  • 39. First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
    Diel H; Ding C; Grehn F; Chronopoulos P; Bartsch O; Hoffmann EM
    BMC Ophthalmol; 2021 Jan; 21(1):28. PubMed ID: 33430815
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.