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Items: 1 to 20 of 22

1.

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.

2.

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):93-101. doi: 10.1002/ajmg.c.30253. Review.

3.

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. doi: 10.1002/ajmg.c.30247. Review.

PMID:
20104612
4.

Mouse models of holoprosencephaly.

Hayhurst M, McConnell SK.

Curr Opin Neurol. 2003 Apr;16(2):135-41. Review.

PMID:
12644739
5.

Mutations in holoprosencephaly.

Wallis D, Muenke M.

Hum Mutat. 2000;16(2):99-108. Review.

PMID:
10923031
6.

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. doi: 10.1002/ajmg.c.30246. Review.

PMID:
20104616
7.

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Review.

8.

Holoprosencephaly.

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

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

9.

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.

Petryk A, Graf D, Marcucio R.

Wiley Interdiscip Rev Dev Biol. 2015 Jan-Feb;4(1):17-32. doi: 10.1002/wdev.161. Epub 2014 Oct 22. Review.

10.

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
11.

Functional analysis of mutations in TGIF associated with holoprosencephaly.

El-Jaick KB, Powers SE, Bartholin L, Myers KR, Hahn J, Orioli IM, Ouspenskaia M, Lacbawan F, Roessler E, Wotton D, Muenke M.

Mol Genet Metab. 2007 Jan;90(1):97-111. Epub 2006 Sep 7. Review.

12.

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M.

Clin Genet. 1998 Mar;53(3):155-63. Review.

PMID:
9630065
13.

Molecular mechanisms of holoprosencephaly.

Wallis DE, Muenke M.

Mol Genet Metab. 1999 Oct;68(2):126-38. Review.

PMID:
10527664
14.

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.

15.

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Nanni L, Ming JE, Du Y, Hall RK, Aldred M, Bankier A, Muenke M.

Am J Med Genet. 2001 Jul 22;102(1):1-10. Review.

PMID:
11471164
16.

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. doi: 10.1002/bdra.23216. Epub 2014 Feb 12. Review.

PMID:
24677696
17.

Holoprosencephaly: recommendations for diagnosis and management.

Kauvar EF, Muenke M.

Curr Opin Pediatr. 2010 Dec;22(6):687-95. doi: 10.1097/MOP.0b013e32833f56d5. Review.

18.

Holoprosencephaly due to numeric chromosome abnormalities.

Solomon BD, Rosenbaum KN, Meck JM, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):146-8. doi: 10.1002/ajmg.c.30232. Review.

19.

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Kauvar EF, Solomon BD, Curry CJ, van Essen AJ, Janssen N, Dutra A, Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):158-69. doi: 10.1002/ajmg.c.30235. Review.

20.

The molecular genetics of holoprosencephaly.

Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236. Review.

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