Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 126

1.

Autosomal recessive alobar holoprosencephaly with essentially normal faces.

Barr M Jr, Cohen MM Jr.

Am J Med Genet. 2002 Sep 15;112(1):28-30.

2.

Pseudotrisomy 13 syndrome in siblings.

Amor DJ, Woods CG.

Clin Dysmorphol. 2000 Apr;9(2):115-8.

PMID:
10826623
3.

Holoprosencephaly anomaly with nasal and premaxillar agenesis (possibly autosomal recessive type).

Durmuş Aydoğdu S, Yakut A, Oner U, Akşit MA, Tel N.

Turk J Pediatr. 1994 Apr-Jun;36(2):157-62.

PMID:
8016918
4.

[A solitary central maxillary incisor and holoprosencephaly in siblings].

Süss J, Pfeiffer RA, Zschiesche S, König R.

Dtsch Zahnarztl Z. 1990 Dec;45(12):785-8. German.

PMID:
2135272
5.

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor.

El-Jaick KB, Brunoni D, Castilla EE, Moreira MA, Orioli IM.

Am J Med Genet A. 2005 Aug 1;136A(4):345. No abstract available.

PMID:
15942952
6.

Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype.

Richieri-Costa A, Ribeiro LA.

Am J Med Genet A. 2006 Dec 1;140(23):2594-7.

PMID:
17001670
7.

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
8.

Familial holoprosencephaly: further example of autosomal recessive inheritance.

Gillessen-Kaesbach G.

Birth Defects Orig Artic Ser. 1996;30(1):251-9. Review. No abstract available.

PMID:
9125332
9.

Holoprosencephaly and endocrine dysgenesis in brothers.

Begleiter ML, Harris DJ.

Am J Med Genet. 1980;7(3):315-8.

PMID:
7193414
10.

Distribution of leptomeningeal glioneuronal heterotopia in alobar holoprosencephaly.

Mizuguchi M, Maekawa S, Kamoshita S.

Arch Neurol. 1994 Sep;51(9):951-4.

PMID:
8080397
11.

Agnathia-holoprosencephaly: a new recessive syndrome?

Porteous ME, Wright C, Smith D, Burn J.

Clin Dysmorphol. 1993 Apr;2(2):161-4.

PMID:
8281280
12.

Alobar holoprosencephaly, proboscis and cyclopia in a chromosomally normal fetus: Prenatal diagnosis and fetal outcome.

Genç M, Genç B, Solak A, Alkiliç L, Uyar M.

Ital J Anat Embryol. 2015;120(2):83-8.

PMID:
27086438
13.

Developmental field defects: coming together of associations and sequences during blastogenesis.

Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G.

Am J Med Genet. 2002 Jul 15;110(4):320-3.

PMID:
12116204
15.

Alobar holoprosencephaly: report of two cases with unusual findings.

Chang LH.

Chang Gung Med J. 2003 Sep;26(9):700-6.

16.

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G.

Am J Med Genet A. 2003 Mar 1;117A(2):112-5.

PMID:
12567406
17.

[Single maxillary central incisor and holoprosencephaly].

Camera G, Bovone S, Zucchinetti P, Pozzolo S, Giunta E.

Pathologica. 1992 May-Jun;84(1091):425-8. Italian.

PMID:
1465328
18.

Holoprosencephaly in a newborn girl with 46,XX,i(18q).

Spinner NB, Eunpu DL, Austria JR, Mamunes P.

Am J Med Genet. 1991 Apr 1;39(1):11-2.

PMID:
1867253
19.

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

Gurrieri F, Trask BJ, van den Engh G, Krauss CM, Schinzel A, Pettenati MJ, Schindler D, Dietz-Band J, Vergnaud G, Scherer SW, et al.

Nat Genet. 1993 Mar;3(3):247-51.

PMID:
8485580
20.

Alobar holoprosencephaly associated with cebocephaly and craniosynostosis.

Lin CH, Tsai JD, Ho YJ, Lin WC.

Acta Neurol Taiwan. 2009 Jun;18(2):123-6.

PMID:
19673365

Supplemental Content

Support Center