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Results: 1 to 20 of 90

1.

Holoprosencephaly Overview.

Solomon BD, Gropman A, Muenke M.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2000 Dec 27 [updated 2013 Aug 29].

2.

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]
Free PMC Article
3.

22q11.2 Deletion Syndrome.

McDonald-McGinn DM, Emanuel BS, Zackai EH.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1999 Sep 23 [updated 2013 Feb 28].

4.

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. doi: 10.1002/ajmg.c.30254. Review.

PMID:
20104615
[PubMed - indexed for MEDLINE]
5.

Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.

Winter TC, Kennedy AM, Woodward PJ.

Radiographics. 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040.

PMID:
25590404
[PubMed - in process]
6.

Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.

Lewis AJ, Simon EM, Barkovich AJ, Clegg NJ, Delgado MR, Levey E, Hahn JS.

Neurology. 2002 Dec 24;59(12):1860-5.

PMID:
12499474
[PubMed - indexed for MEDLINE]
7.

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.

Coutton C, Poreau B, Devillard F, Durand C, Odent S, Rozel C, Vieville G, Amblard F, Jouk PS, Satre V.

Mol Syndromol. 2014 Jan;5(1):25-31. doi: 10.1159/000355391. Epub 2013 Oct 2.

PMID:
24550762
[PubMed]
Free PMC Article
8.

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.

PMID:
20859208
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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]
10.

Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.

Hahn JS, Barnes PD.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):120-32. doi: 10.1002/ajmg.c.30238. Review.

PMID:
20104607
[PubMed - indexed for MEDLINE]
11.

Semilobar holoprosencephaly with 21q22 deletion: an autopsy report.

Mallick S, Panda SS, Ray R, Shukla R, Kabra M, Agarwal R.

BMJ Case Rep. 2014 Mar 13;2014. pii: bcr2014203597. doi: 10.1136/bcr-2014-203597.

PMID:
24626384
[PubMed - indexed for MEDLINE]
12.

Smith-Lemli-Opitz Syndrome.

Nowaczyk MJM.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1998 Nov 13 [updated 2013 Jun 20].

13.

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Keaton AA, Solomon BD, Kauvar EF, El-Jaick KB, Gropman AL, Zafer Y, Meck JM, Bale SJ, Grange DK, Haddad BR, Gowans GC, Clegg NJ, Delgado MR, Hahn JS, Pineda-Alvarez DE, Lacbawan F, Vélez JI, Roessler E, Muenke M.

Mol Syndromol. 2010;1(5):211-222. Epub 2011 May 18.

PMID:
22125506
[PubMed]
Free PMC Article
14.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Bear KA, Solomon BD, Antonini S, Arnhold IJ, França MM, Gerkes EH, Grange DK, Hadley DW, Jääskeläinen J, Paulo SS, Rump P, Stratakis CA, Thompson EM, Willis M, Winder TL, Jorge AA, Roessler E, Muenke M.

J Med Genet. 2014 Jun;51(6):413-8. doi: 10.1136/jmedgenet-2013-102249. Epub 2014 Apr 17.

PMID:
24744436
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
20104604
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Congenital Muscular Dystrophy Overview.

Sparks S, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2001 Jan 22 [updated 2012 Aug 23].

17.

Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain.

Plawner LL, Delgado MR, Miller VS, Levey EB, Kinsman SL, Barkovich AJ, Simon EM, Clegg NJ, Sweet VT, Stashinko EE, Hahn JS.

Neurology. 2002 Oct 8;59(7):1058-66.

PMID:
12370462
[PubMed - indexed for MEDLINE]
18.

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. Review.

PMID:
21183895
[PubMed - indexed for MEDLINE]
19.

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Ribeiro LA, Roessler E, Hu P, Pineda-Alvarez DE, Zhou N, Jones M, Chandrasekharappa S, Richieri-Costa A, Muenke M.

Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):912-7. doi: 10.1002/bdra.23047. Epub 2012 Jul 27.

PMID:
22847929
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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. doi: 10.1515/jpem-2013-0449.

PMID:
24706429
[PubMed - in process]
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