Opitz JM - Search Results

1

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. So J, et al. Among authors: opitz jm. Am J Med Genet A. 2005 Jan 1;132A(1):1-7. doi: 10.1002/ajmg.a.30407. Am J Med Genet A. 2005. PMID: 15558842

2

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.

Spranger JW, Schinzel A, Myers T, Ryan J, Giedion A, Opitz JM. Spranger JW, et al. Among authors: opitz jm. Am J Med Genet. 1980;5(1):13-24. doi: 10.1002/ajmg.1320050104. Am J Med Genet. 1980. PMID: 7395897

3

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Quaderi NA, et al. Among authors: opitz jm. Nat Genet. 1997 Nov;17(3):285-91. doi: 10.1038/ng1197-285. Nat Genet. 1997. PMID: 9354791 Free article.

4

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Gaudenz K, et al. Among authors: opitz jm. Am J Hum Genet. 1998 Sep;63(3):703-10. doi: 10.1086/302010. Am J Hum Genet. 1998. PMID: 9718340 Free PMC article.

5

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Bohring A, Silengo M, Lerone M, Superneau DW, Spaich C, Braddock SR, Poss A, Opitz JM. Bohring A, et al. Among authors: opitz jm. Am J Med Genet. 1999 Aug 27;85(5):438-46. doi: 10.1002/(sici)1096-8628(19990827)85:5<438::aid-ajmg2>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10405439 Review.

6

Meier-Gorlin syndrome: report of eight additional cases and review.

Bongers EM, Opitz JM, Fryer A, Sarda P, Hennekam RC, Hall BD, Superneau DW, Harbison M, Poss A, van Bokhoven H, Hamel BC, Knoers NV. Bongers EM, et al. Among authors: opitz jm. Am J Med Genet. 2001 Aug 1;102(2):115-24. doi: 10.1002/ajmg.1452. Am J Med Genet. 2001. PMID: 11477602 Review.

7

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. Dessay S, et al. Among authors: opitz jm. Am J Med Genet. 2002 Sep 15;112(1):6-11. doi: 10.1002/ajmg.10546. Am J Med Genet. 2002. PMID: 12239712 Review.

8

Prenatal death in Smith-Lemli-Opitz/RSH syndrome.

Putnam AR, Szakacs JG, Opitz JM, Byrne JL. Putnam AR, et al. Among authors: opitz jm. Am J Med Genet A. 2005 Sep 15;138(1):61-5. doi: 10.1002/ajmg.a.30246. Am J Med Genet A. 2005. PMID: 15940686 Review. No abstract available.

9

A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.

Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N. Kjaer KW, et al. Among authors: opitz jm. Am J Med Genet A. 2005 Nov 1;138(4):328-39. doi: 10.1002/ajmg.a.30971. Am J Med Genet A. 2005. PMID: 16222680

10

A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases.

Bofinger MK, Opitz JM, Soukup SW, Ekblom LS, Phillips S, Daniel A, Greene EW. Bofinger MK, et al. Among authors: opitz jm. Am J Med Genet. 1991 Jan;38(1):1-8. doi: 10.1002/ajmg.1320380102. Am J Med Genet. 1991. PMID: 2012119

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