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 *

286 related articles for article (PubMed ID: 11693794)

  • 21. Physical mapping of the holoprosencephaly critical region on chromosome 7q36.
    Gurrieri F; Trask BJ; van den Engh G; Krauss CM; Schinzel A; Pettenati MJ; Schindler D; Dietz-Band J; Vergnaud G; Scherer SW
    Nat Genet; 1993 Mar; 3(3):247-51. PubMed ID: 8485580
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
    Cordero DR; Bendavid C; Shanske AL; Haddad BR; Muenke M
    Eur J Med Genet; 2008; 51(2):106-12. PubMed ID: 18178536
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in holoprosencephaly.
    Wallis D; Muenke M
    Hum Mutat; 2000; 16(2):99-108. PubMed ID: 10923031
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients.
    Portnoï MF; Gruchy N; Marlin S; Finkel L; Denoyelle F; Dubourg C; Odent S; Siffroi JP; Le Bouc Y; Houang M
    Clin Dysmorphol; 2007 Oct; 16(4):247-52. PubMed ID: 17786116
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.
    Ribeiro LA; Quiezi RG; Nascimento A; Bertolacini CP; Richieri-Costa A
    Am J Med Genet A; 2010 Jul; 152A(7):1688-94. PubMed ID: 20583177
    [TBL] [Abstract][Full Text] [Related]  

  • 26. MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly.
    Bendavid C; Dubourg C; Pasquier L; Gicquel I; Le Gallou S; Mottier S; Durou MR; Henry C; Odent S; David V
    Hum Mutat; 2007 Dec; 28(12):1189-97. PubMed ID: 17683084
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prenatal ultrasound diagnosis in 51 cases of holoprosencephaly: craniofacial anatomy, associated malformations, and genetics.
    Wenghoefer M; Ettema AM; Sina F; Geipel A; Kuijpers-Jagtman AM; Hansmann H; Borstlap WA; Bergé S
    Cleft Palate Craniofac J; 2010 Jan; 47(1):15-21. PubMed ID: 19860496
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.
    Bellone S; De Rienzo F; Prodam F; Savastio S; Busti A; Genoni G; Aimaretti G; Bona G
    Panminerva Med; 2010 Dec; 52(4):345-54. PubMed ID: 21183895
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.
    Taniguchi K; Anderson AE; Sutherland AE; Wotton D
    PLoS Genet; 2012; 8(2):e1002524. PubMed ID: 22383895
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
    Muenke M; Gurrieri F; Bay C; Yi DH; Collins AL; Johnson VP; Hennekam RC; Schaefer GB; Weik L; Lubinsky MS
    Proc Natl Acad Sci U S A; 1994 Aug; 91(17):8102-6. PubMed ID: 8058764
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.
    El-Dessouky SH; Aboulghar MM; Gaafar HM; Abdella RM; Sharaf MF; Ateya MI; Elarab AE; Zidan WH; Helal RM; Aboelsaud SM; Eid MM; Abdel-Salam GMH
    Prenat Diagn; 2020 Apr; 40(5):565-576. PubMed ID: 31955448
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
    Paulussen AD; Schrander-Stumpel CT; Tserpelis DC; Spee MK; Stegmann AP; Mancini GM; Brooks AS; Collée M; Maat-Kievit A; Simon ME; van Bever Y; Stolte-Dijkstra I; Kerstjens-Frederikse WS; Herkert JC; van Essen AJ; Lichtenbelt KD; van Haeringen A; Kwee ML; Lachmeijer AM; Tan-Sindhunata GM; van Maarle MC; Arens YH; Smeets EE; de Die-Smulders CE; Engelen JJ; Smeets HJ; Herbergs J
    Eur J Hum Genet; 2010 Sep; 18(9):999-1005. PubMed ID: 20531442
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
    Hu T; Kruszka P; Martinez AF; Ming JE; Shabason EK; Raam MS; Shaikh TH; Pineda-Alvarez DE; Muenke M
    Am J Med Genet C Semin Med Genet; 2018 Jun; 178(2):175-186. PubMed ID: 30182442
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Holoprosencephaly: molecular study of a California population.
    Nanni L; Croen LA; Lammer EJ; Muenke M
    Am J Med Genet; 2000 Feb; 90(4):315-9. PubMed ID: 10710230
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Holoprosencephaly: An update on cytogenetic abnormalities.
    Bendavid C; Dupé V; Rochard L; Gicquel I; Dubourg C; David V
    Am J Med Genet C Semin Med Genet; 2010 Feb; 154C(1):86-92. PubMed ID: 20104602
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.
    Wotton D; Taniguchi K
    Am J Med Genet C Semin Med Genet; 2018 Jun; 178(2):128-139. PubMed ID: 29749689
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.
    Pasquier L; Dubourg C; Blayau M; Lazaro L; Le Marec B; David V; Odent S
    Eur J Hum Genet; 2000 Oct; 8(10):797-800. PubMed ID: 11039582
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism.
    Tasdemir S; Sahin I; Cayır A; Doneray H; Solomon BD; Muenke M; Yuce I; Tatar A
    J Pediatr Endocrinol Metab; 2014 Jul; 27(7-8):777-81. PubMed ID: 24706429
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
    Odent S; Atti-Bitach T; Blayau M; Mathieu M; Aug J; Delezo de AL; Gall JY; Le Marec B; Munnich A; David V; Vekemans M
    Hum Mol Genet; 1999 Sep; 8(9):1683-9. PubMed ID: 10441331
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.
    Savastano CP; Bernardi P; Seuánez HN; Moreira MÂ; Orioli IM
    Birth Defects Res A Clin Mol Teratol; 2014 Apr; 100(4):300-6. PubMed ID: 24677696
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.