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Items: 1 to 20 of 140

1.

Cerebellar atrophy in a patient with velocardiofacial syndrome.

Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH.

J Med Genet. 1995 Jul;32(7):561-3.

2.

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.

Pathologica. 1999 Jun;91(3):166-72. Review.

PMID:
10536461
3.

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA.

Am J Med Genet. 1996 Oct 16;65(2):101-3.

PMID:
8911598
4.

Monozygotic twins with 22q11 deletion and discordant phenotypes.

Fryer A.

J Med Genet. 1996 Feb;33(2):173. No abstract available.

5.

Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.

Bolland E, Manzur AY, Milward TM, Muntoni F.

Eur J Paediatr Neurol. 2000;4(2):73-6.

PMID:
10817488
6.

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

PMID:
16007629
7.

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ 3rd, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH.

Pediatrics. 1997 May;99(5):E9.

PMID:
9113966
8.

Genetic basis of DiGeorge and velocardiofacial syndromes.

Driscoll DA.

Curr Opin Pediatr. 1994 Dec;6(6):702-6. Review.

PMID:
7849818
9.

CATCH 22 Syndrome.

Yonehara Y, Nakatsuka T, Ichioka S, Sasaki N, Kobayashi T.

J Craniofac Surg. 2002 Sep;13(5):623-6.

PMID:
12218787
10.

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P.

J Pediatr. 1993 Sep;123(3):406-10.

PMID:
8355116
11.
12.

[3 children with velocardiofacial (Shprintzen) syndrome].

Lie DA, Beemer FA.

Ned Tijdschr Geneeskd. 1996 Feb 17;140(7):372-5. Dutch.

PMID:
8628424
13.

Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).

Wang PP, Solot C, Moss EM, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH.

J Dev Behav Pediatr. 1998 Oct;19(5):342-5. No abstract available.

PMID:
9809264
14.

Di George anomaly and velocardiofacial syndrome.

Stevens CA, Carey JC, Shigeoka AO.

Pediatrics. 1990 Apr;85(4):526-30.

PMID:
2314965
15.

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.

Elder DA, Kaiser-Rogers K, Aylsworth AS, Calikoglu AS.

Am J Med Genet. 2001 Jun 1;101(1):17-9.

PMID:
11343331
16.

Velocardiofacial syndrome in an unexplained XX male.

Phelan MC, Rogers RC, Crawford EC, Brown LG, Page DC.

Am J Med Genet A. 2003 Jan 1;116A(1):77-9.

PMID:
12476456
17.

Velocardiofacial syndrome.

Pike AC, Super M.

Postgrad Med J. 1997 Dec;73(866):771-5. Review.

18.
19.

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature.

Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA.

Am J Med Genet. 1996 Nov 11;65(4):309-16. Review.

PMID:
8923941
20.

[Van der Woude syndrome in combination with ring chromosome 18].

Kalker U, Gabriel M, Jacobi G.

Monatsschr Kinderheilkd. 1988 Feb;136(2):95-8. German.

PMID:
3367915

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