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Results: 1 to 20 of 170

Similar articles for PubMed (Select 21940735)

1.

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L, Quélin C, Dupé V, David V, Odent S.

J Med Genet. 2011 Nov;48(11):752-60. doi: 10.1136/jmedgenet-2011-100339. Epub 2011 Sep 22.

2.

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. doi: 10.1038/ejhg.2010.70. Epub 2010 Jun 9.

3.

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
4.

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
5.

[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
6.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.

J Med Genet. 2009 Jun;46(6):389-98. doi: 10.1136/jmg.2008.063818. Epub 2009 Apr 2.

7.

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.

8.

Phenotypic and molecular variability of the holoprosencephalic spectrum.

Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S.

Am J Med Genet A. 2004 Aug 15;129A(1):21-4.

PMID:
15266610
9.
10.

Holoprosencephaly-Polydactyly syndrome: in search of an etiology.

Cordero DR, Bendavid C, Shanske AL, Haddad BR, Muenke M.

Eur J Med Genet. 2008 Mar-Apr;51(2):106-12. doi: 10.1016/j.ejmg.2007.08.004. Epub 2007 Sep 15.

11.

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Cohen MM Jr.

Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73. Review.

PMID:
17001700
12.

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Rosenfeld JA, Ballif BC, Martin DM, Aylsworth AS, Bejjani BA, Torchia BS, Shaffer LG.

Hum Genet. 2010 Apr;127(4):421-40. doi: 10.1007/s00439-009-0778-7.

PMID:
20066439
13.

Holoprosencephaly: molecular study of a California population.

Nanni L, Croen LA, Lammer EJ, Muenke M.

Am J Med Genet. 2000 Feb 14;90(4):315-9.

PMID:
10710230
14.

Holoprosencephaly.

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

Orphanet J Rare Dis. 2007 Feb 2;2:8. Review.

15.

Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.

Tatsi C, Sertedaki A, Voutetakis A, Valavani E, Magiakou MA, Kanaka-Gantenbein C, Chrousos GP, Dacou-Voutetakis C.

J Clin Endocrinol Metab. 2013 Apr;98(4):E779-84. doi: 10.1210/jc.2012-3982. Epub 2013 Mar 8.

PMID:
23476075
16.

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Cummings DA, Bous SM, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Vélez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M.

J Med Genet. 2010 Aug;47(8):513-24. doi: 10.1136/jmg.2009.073049. Epub 2009 Dec 2.

17.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.

J Med Genet. 2012 Jul;49(7):473-9. doi: 10.1136/jmedgenet-2012-101008.

PMID:
22791840
18.

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated.

Chabchoub E, Willekens D, Vermeesch JR, Fryns JP.

Clin Genet. 2012 Jun;81(6):584-9. doi: 10.1111/j.1399-0004.2011.01684.x. Epub 2011 May 23.

PMID:
21496007
19.

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.

Gripp KW, Wotton D, Edwards MC, Roessler E, Ades L, Meinecke P, Richieri-Costa A, Zackai EH, Massagué J, Muenke M, Elledge SJ.

Nat Genet. 2000 Jun;25(2):205-8.

PMID:
10835638
20.

A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.

Chen M, Kuo SJ, Liu CS, Chen WL, Ko TM, Chen TH, Chang SP, Huang CH, Chang YY, Wang BT.

Prenat Diagn. 2006 Mar;26(3):226-30.

PMID:
16475235
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