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Holoprosencephaly.

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.

Orphanet J Rare Dis. 2007 Feb 2;2:8. Review.PMID: 17274816 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).

Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J, Bendavid C, Odent S.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):191-6. Review.PMID: 20104616 [PubMed - indexed for MEDLINE]Related articles

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Dubourg C, Lazaro L, Pasquier L, Bendavid C, Blayau M, Le Duff F, Durou MR, Odent S, David V.

Hum Mutat. 2004 Jul;24(1):43-51.PMID: 15221788 [PubMed - indexed for MEDLINE]Related articles

Holoprosencephaly: the Maastricht experience.

Moog U, De Die-Smulders CE, Schrander-Stumpel CT, Engelen JJ, Hamers AJ, Frints S, Fryns JP.

Genet Couns. 2001;12(3):287-98.PMID: 11693794 [PubMed - indexed for MEDLINE]Related articles

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes.

Bendavid C, Dubourg C, Gicquel I, Pasquier L, Saugier-Veber P, Durou MR, Jaillard S, Frébourg T, Haddad BR, Henry C, Odent S, David V.

Hum Genet. 2006 Mar;119(1-2):1-8. Epub 2005 Dec 2.PMID: 16323008 [PubMed - indexed for MEDLINE]Related articles

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer SW, Tsui LC, Muenke M.

Nat Genet. 1996 Nov;14(3):357-60.PMID: 8896572 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 17683084 [PubMed - indexed for MEDLINE]Related articles

Solitary median maxillary central incisor (SMMCI) syndrome.

Hall RK.

Orphanet J Rare Dis. 2006 Apr 9;1:12. Review.PMID: 16722608 [PubMed - indexed for MEDLINE]Related articlesFree article

Holoprosencephaly-like phenotype: clinical and genetic perspectives.

Richieri-Costa A, Ribeiro LA.

Am J Med Genet A. 2006 Dec 1;140(23):2587-93.PMID: 17001669 [PubMed - indexed for MEDLINE]Related articles

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.

Heussler HS, Suri M, Young ID, Muenke M.

Arch Dis Child. 2002 Apr;86(4):293-6.PMID: 11919111 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical epidemiologic study of holoprosencephaly in South America.

Orioli IM, Castilla EE.

Am J Med Genet A. 2007 Dec 15;143A(24):3088-99.PMID: 17987642 [PubMed - indexed for MEDLINE]Related articles

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.

Bendavid C, Haddad BR, Griffin A, Huizing M, Dubourg C, Gicquel I, Cavalli LR, Pasquier L, Shanske AL, Long R, Ouspenskaia M, Odent S, Lacbawan F, David V, Muenke M.

J Med Genet. 2006 Jun;43(6):496-500. Epub 2005 Sep 30.PMID: 16199538 [PubMed - indexed for MEDLINE]Related articlesFree article

Management of children with holoprosencephaly.

Levey EB, Stashinko E, Clegg NJ, Delgado MR.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):183-90. Review.PMID: 20104615 [PubMed - indexed for MEDLINE]Related articles

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G.

Am J Med Genet A. 2003 Mar 1;117A(2):112-5.PMID: 12567406 [PubMed - indexed for MEDLINE]Related articles

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.

Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V.

Hum Mutat. 2009 Aug;30(8):1175-82.PMID: 19431187 [PubMed - indexed for MEDLINE]Related articles

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.

Richieri-Costa A, Ribeiro LA.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):149-57. Review.PMID: 20104612 [PubMed - indexed for MEDLINE]Related articles

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.

Hehr U, Gross C, Diebold U, Wahl D, Beudt U, Heidemann P, Hehr A, Mueller D.

Eur J Pediatr. 2004 Jul;163(7):347-52. Epub 2004 Apr 24.PMID: 15107988 [PubMed - indexed for MEDLINE]Related articles

[Genetic study of holoprosencephaly]

Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V.

Ann Biol Clin (Paris). 2003 Nov-Dec;61(6):679-87. French. PMID: 14711609 [PubMed - indexed for MEDLINE]Related articlesFree article

Holoprosencephaly: an antenatally-diagnosed case series and subject review.

Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, Lim JY, Tien SL.

Ann Acad Med Singapore. 2008 Jul;37(7):594-7. Review.PMID: 18695774 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M.

Hum Genet. 2002 Apr;110(4):297-301. Epub 2002 Mar 2. Erratum in: Hum Genet 2002 Oct;111(4-5):464. PMID: 11941477 [PubMed - indexed for MEDLINE]Related articles