Shprintzen RJ - Search Results

1

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases.

Williams MA, Shprintzen RJ, Goldberg RB. Williams MA, et al. Among authors: shprintzen rj. J Craniofac Genet Dev Biol. 1985;5(2):175-80. J Craniofac Genet Dev Biol. 1985. PMID: 4019731

2

Adenoid hypoplasia in the velo-cardio-facial syndrome.

Williams MA, Shprintzen RJ, Rakoff SJ. Williams MA, et al. Among authors: shprintzen rj. J Craniofac Genet Dev Biol. 1987;7(1):23-6. J Craniofac Genet Dev Biol. 1987. PMID: 3597719

3

Velo-cardio-facial syndrome: a review of 120 patients.

Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ. Goldberg R, et al. Among authors: shprintzen rj. Am J Med Genet. 1993 Feb 1;45(3):313-9. doi: 10.1002/ajmg.1320450307. Am J Med Genet. 1993. PMID: 8434617 Review.

4

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, et al. Driscoll DA, et al. Among authors: shprintzen rj. Am J Med Genet. 1992 Sep 15;44(2):261-8. doi: 10.1002/ajmg.1320440237. Am J Med Genet. 1992. PMID: 1360769

5

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J. Scambler PJ, et al. Lancet. 1992 May 9;339(8802):1138-9. doi: 10.1016/0140-6736(92)90734-k. Lancet. 1992. PMID: 1349369

6

Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.

Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, et al. Morrow B, et al. Am J Hum Genet. 1995 Jun;56(6):1391-403. Am J Hum Genet. 1995. PMID: 7762562 Free PMC article.

7

Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.

Lachman HM, Morrow B, Shprintzen R, Veit S, Parsia SS, Faedda G, Goldberg R, Kucherlapati R, Papolos DF. Lachman HM, et al. Am J Med Genet. 1996 Sep 20;67(5):468-72. doi: 10.1002/(SICI)1096-8628(19960920)67:5<468::AID-AJMG5>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8886163

8

Molecular analysis of velo-cardio-facial syndrome patients with psychiatric disorders.

Carlson C, Papolos D, Pandita RK, Faedda GL, Veit S, Goldberg R, Shprintzen R, Kucherlapati R, Morrow B. Carlson C, et al. Am J Hum Genet. 1997 Apr;60(4):851-9. Am J Hum Genet. 1997. PMID: 9106531 Free PMC article.

9

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.

Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE. Carlson C, et al. Am J Hum Genet. 1997 Sep;61(3):620-9. doi: 10.1086/515508. Am J Hum Genet. 1997. PMID: 9326327 Free PMC article.

10

A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias.

Shprintzen RJ, Goldberg RB. Shprintzen RJ, et al. J Craniofac Genet Dev Biol. 1982;2(1):65-74. J Craniofac Genet Dev Biol. 1982. PMID: 6182156

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