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Results: 16

Related Articles by Review for PubMed (Select 14581620)

1.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M.

Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13424-9. Epub 2003 Oct 27.

2.

GLI2 mutations as a cause of hypopituitarism.

Cohen LE.

Pediatr Endocrinol Rev. 2012 Aug;9(4):706-9. Review.

PMID:
23304807
3.

Mouse models of holoprosencephaly.

Hayhurst M, McConnell SK.

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

PMID:
12644739
4.

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
5.

Holoprosencephaly.

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

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

6.

Mutations in holoprosencephaly.

Wallis D, Muenke M.

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

PMID:
10923031
7.

Molecular mechanisms of holoprosencephaly.

Wallis DE, Muenke M.

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

PMID:
10527664
8.

Human developmental disorders and the Sonic hedgehog pathway.

Ming JE, Roessler E, Muenke M.

Mol Med Today. 1998 Aug;4(8):343-9. Review.

PMID:
9755453
9.

Murine models of holoprosencephaly.

Schachter KA, Krauss RS.

Curr Top Dev Biol. 2008;84:139-70. doi: 10.1016/S0070-2153(08)00603-0. Review.

PMID:
19186244
10.

Embryogenesis of holoprosencephaly.

Shiota K, Yamada S, Komada M, Ishibashi M.

Am J Med Genet A. 2007 Dec 15;143A(24):3079-87. Review.

PMID:
17963261
11.

Holoprosencephaly: from Homer to Hedgehog.

Ming JE, Muenke M.

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

PMID:
9630065
12.

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
13.

Holoprosencephaly: a paradigm for the complex genetics of brain development.

Roessler E, Muenke M.

J Inherit Metab Dis. 1998 Aug;21(5):481-97. Review.

PMID:
9728329
14.

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.

15.

Role of GLI2 in hypopituitarism phenotype.

Arnhold IJ, França MM, Carvalho LR, Mendonca BB, Jorge AA.

J Mol Endocrinol. 2015 Jun;54(3):R141-R150. Epub 2015 Apr 15. Review.

16.

Abnormal sterol metabolism in holoprosencephaly.

Haas D, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):102-8. doi: 10.1002/ajmg.c.30243. Review.

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