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Results: 1 to 20 of 197

1.

Holoprosencephaly and endocrine dysgenesis in brothers.

Begleiter ML, Harris DJ.

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

PMID:
7193414
[PubMed - indexed for MEDLINE]
2.

Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome.

Hockey A, Crowhurst J, Cullity G.

Prenat Diagn. 1988 Nov;8(9):683-6.

PMID:
3211858
[PubMed - indexed for MEDLINE]
3.

Autosomal dominant inheritance of Barber-Say syndrome.

Dinulos MB, Pagon RA.

Am J Med Genet. 1999 Sep 3;86(1):54-6.

PMID:
10440829
[PubMed - indexed for MEDLINE]
4.

Roberts syndrome or "X-linked amelia"?

Gershoni-Baruch R, Drugan A, Bronshtein M, Zimmer EZ.

Am J Med Genet. 1990 Dec;37(4):569-72.

PMID:
2260610
[PubMed - indexed for MEDLINE]
5.

A new recessive syndrome of unusual facies and multiple structural abnormalities.

Thakker Y, Donnai D.

J Med Genet. 1991 Sep;28(9):633-5.

PMID:
1956065
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Further evidence for the autosomal-recessive inheritance of the COFS syndrome.

Lurie IW, Cherstvoy ED, Lazjuk GI, Nedzved MK, Usoev SS.

Clin Genet. 1976 Dec;10(6):343-6. No abstract available.

PMID:
825334
[PubMed - indexed for MEDLINE]
7.

Familial agnathia-holoprosencephaly.

Pauli RM, Pettersen JC, Arya S, Gilbert EF.

Am J Med Genet. 1983 Apr;14(4):677-98.

PMID:
6846401
[PubMed - indexed for MEDLINE]
8.

Velo-cardio-facial syndrome presenting as holoprosencephaly.

Wraith JE, Super M, Watson GH, Phillips M.

Clin Genet. 1985 Apr;27(4):408-10.

PMID:
3995791
[PubMed - indexed for MEDLINE]
9.

X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males.

Edwards M, Mulcahy D, Turner G.

Clin Genet. 1988 Nov;34(5):325-32.

PMID:
3229001
[PubMed - indexed for MEDLINE]
10.

Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction. III. Genetic studies.

Berg K, Larsen IF, Hansen E.

Clin Genet. 1978 Feb;13(2):190-200.

PMID:
304775
[PubMed - indexed for MEDLINE]
11.

Brief clinical report: HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance.

Aymé S, Mattei JF.

Am J Med Genet. 1983 Apr;14(4):759-66.

PMID:
6405616
[PubMed - indexed for MEDLINE]
12.

New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.

Brooks SS, Wisniewski K, Brown WT.

Am J Med Genet. 1994 Jul 15;51(4):586-90.

PMID:
7943044
[PubMed - indexed for MEDLINE]
13.

Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?

Stalker HJ, Chitayat D.

Am J Med Genet. 1992 Sep 1;44(1):46-7.

PMID:
1519649
[PubMed - indexed for MEDLINE]
14.

The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly.

Martin NJ, Steinberg BG.

Am J Med Genet. 1983 Apr;14(4):767-72.

PMID:
6846406
[PubMed - indexed for MEDLINE]
15.

Smith-Fineman-Myers syndrome in two brothers.

Adès LC, Kerr B, Turner G, Wise G.

Am J Med Genet. 1991 Sep 15;40(4):467-70.

PMID:
1684092
[PubMed - indexed for MEDLINE]
16.

Holoprosencephaly: variation of expression in face and brain in three sibs.

Zwetsloot CP, Brouwer OF, Maaswinkel-Mooy PD.

J Med Genet. 1989 Apr;26(4):274-6.

PMID:
2751762
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Robin sequence with facial and digital anomalies in two half-brothers by the same mother.

Chitayat D, Meunier CM, Hodgkinson KA, Azouz ME.

Am J Med Genet. 1991 Aug 1;40(2):167-72.

PMID:
1897570
[PubMed - indexed for MEDLINE]
18.

Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters.

Knoblauch H, Urban M, Tinschert S.

Genet Couns. 1999;10(3):315-20.

PMID:
10546105
[PubMed - indexed for MEDLINE]
19.

Bilateral absence of the kidneys and ureters. Three cases reported in one family.

Pashayan HM, Dowd T, Nigro AV.

J Med Genet. 1977 Jun;14(3):205-9.

PMID:
881712
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes.

Müller FM, Barth GM, Menger H, Spranger J.

Am J Med Genet. 1993 Oct 1;47(5):698-701.

PMID:
8266998
[PubMed - indexed for MEDLINE]

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