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Results: 1 to 20 of 163

1.

Holoprosencephaly: examples of clinical variability and etiologic heterogeneity.

Corsello G, Buttitta P, Cammarata M, Lo Presti A, Maresi E, Zumpani L, Giuffrè L.

Am J Med Genet. 1990 Oct;37(2):244-9.

PMID:
2147361
[PubMed - indexed for MEDLINE]
2.

Prenatal diagnosis of partial monosomy 18p(18p11.2-->pter) and trisomy 21q(21q22.3-->qter) with alobar holoprosencephaly and premaxillary agenesis.

Chen CP, Chern SR, Wang W, Lee CC, Chen WL, Chen LF, Chang TY, Tzen CY.

Prenat Diagn. 2001 May;21(5):346-50. Review.

PMID:
11360273
[PubMed - indexed for MEDLINE]
3.

Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly.

Chen CP, Liu FF, Jan SW, Lin CL, Lan CC.

Clin Genet. 1996 Nov;50(5):321-6.

PMID:
9007318
[PubMed - indexed for MEDLINE]
4.

Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.

Chen CP, Devriendt K, Lee CC, Chen WL, Wang W, Wang TY.

Prenat Diagn. 1999 Oct;19(10):986-9.

PMID:
10521829
[PubMed - indexed for MEDLINE]
5.

Pseudo-trisomy 13 syndrome: report of one case.

Tsai FJ, Tsai CH.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1992 Nov-Dec;33(6):441-5.

PMID:
1306929
[PubMed - indexed for MEDLINE]
6.

Holoprosencephaly: epidemiologic and clinical characteristics of a California population.

Croen LA, Shaw GM, Lammer EJ.

Am J Med Genet. 1996 Aug 23;64(3):465-72.

PMID:
8862623
[PubMed - indexed for MEDLINE]
7.

Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries.

van Essen AJ, Schoots CJ, van Lingen RA, Mourits MJ, Tuerlings JH, Leegte B.

Am J Med Genet. 1993 Aug 1;47(1):85-8. Review.

PMID:
8368259
[PubMed - indexed for MEDLINE]
8.

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum.

Lurie IW, Wulfsberg EA.

Am J Med Genet. 1993 Sep 1;47(3):405-9. Review.

PMID:
8135289
[PubMed - indexed for MEDLINE]
9.

Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

Seller MJ, Chitty LS, Dunbar H.

J Med Genet. 1993 Nov;30(11):970-1.

PMID:
8301659
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A case of trisomy 21 with holoprosencephaly: the fifth case.

Hamada H, Arinami T, Koresawa M, Kubo T, Hamaguchi H, Iwasaki H.

Jinrui Idengaku Zasshi. 1991 Jun;36(2):159-63.

PMID:
1833573
[PubMed - indexed for MEDLINE]
11.

Prenatal ultrasonographic diagnosis of holoprosencephaly. Two cases of cebocephaly and two of cyclopia.

Schinzel A, Savoldelli G, Briner J, Schmid W.

Arch Gynecol. 1984;236(1):47-53.

PMID:
6391395
[PubMed - indexed for MEDLINE]
12.

Recognizing the clinical features of Trisomy 13 syndrome.

Rios A, Furdon SA, Adams D, Clark DA.

Adv Neonatal Care. 2004 Dec;4(6):332-43.

PMID:
15609255
[PubMed - indexed for MEDLINE]
13.

Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.

Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S.

Am J Med Genet. 1994 Apr 1;50(2):177-9.

PMID:
8010349
[PubMed - indexed for MEDLINE]
14.

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]
15.

Pseudo-trisomy 13 syndrome.

Cohen MM Jr, Gorlin RJ.

Am J Med Genet. 1991 Jun 1;39(3):332-5; discussion 336-7. Review.

PMID:
1867286
[PubMed - indexed for MEDLINE]
16.

Premaxillary agenesis, ocular hypotelorism holoprosencephaly, and extracranial anomalies in an infant with a normal karyogram.

Rowlatt U, Pruzansky S.

Cleft Palate J. 1980 Jul;17(3):197-204.

PMID:
6930994
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
20104610
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Prenatal diagnosis of de novo partial trisomy 13q (13q22 --> qter) and partial monosomy 8p (8p23.3 --> pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart.

Chen CP, Chern SR, Hsu CY, Lee CC, Lee MS, Wang W.

Prenat Diagn. 2005 Apr;25(4):334-6. No abstract available.

PMID:
15849788
[PubMed - indexed for MEDLINE]
19.

Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature.

Ming PM, Goodner DM, Park TS.

Am J Dis Child. 1976 Aug;130(8):864-7.

PMID:
941887
[PubMed - indexed for MEDLINE]
20.

Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother.

Urioste M, Valcarcel E, Gomez MA, Pinel I, Garcia de León R, Diaz de Bustamante A, Tebar R, Martinez-Frias ML.

Am J Med Genet. 1988 Aug;30(4):925-8.

PMID:
2973234
[PubMed - indexed for MEDLINE]

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