Opitz JM - Search Results

1

Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.

Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Graham JM Jr, et al. Among authors: opitz jm. Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553. Am J Med Genet A. 2008. PMID: 18973276 Free PMC article.

2

Smith-Lemli-Opitz (RSH) syndrome bibliography.

Opitz JM, Penchaszadeh VB, Holt MC, Spano LM. Opitz JM, et al. Am J Med Genet. 1987 Nov;28(3):745-50. doi: 10.1002/ajmg.1320280324. Am J Med Genet. 1987. PMID: 3322013 No abstract available.

3

The MIller-Dieker syndrome.

Jones KL, Gilbert EF, Kaveggia EG, Opitz JM. Jones KL, et al. Among authors: opitz jm. Pediatrics. 1980 Aug;66(2):277-81. Pediatrics. 1980. PMID: 7402813

4

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. Risheg H, et al. Among authors: opitz jm. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4. Nat Genet. 2007. PMID: 17334363

5

Elements of morphology: standard terminology for the periorbital region.

Hall BD, Graham JM Jr, Cassidy SB, Opitz JM. Hall BD, et al. Among authors: opitz jm. Am J Med Genet A. 2009 Jan;149A(1):29-39. doi: 10.1002/ajmg.a.32597. Am J Med Genet A. 2009. PMID: 19125427

6

Personal journeys to and in human genetics and dysmorphology.

Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: opitz jm. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159

7

FG syndrome update 1988: note of 5 new patients and bibliography.

Opitz JM, Richieri-da Costa A, Aase JM, Benke PJ. Opitz JM, et al. Am J Med Genet. 1988 May-Jun;30(1-2):309-28. doi: 10.1002/ajmg.1320300132. Am J Med Genet. 1988. PMID: 3052062 Review.

8

G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography.

Opitz JM. Opitz JM. Am J Med Genet. 1987 Oct;28(2):275-85. doi: 10.1002/ajmg.1320280203. Am J Med Genet. 1987. PMID: 3322001 Review. No abstract available.

9

Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993.

Opitz JM, Penchaszadeh VB, Holt MC, Spano LM, Smith VL. Opitz JM, et al. Am J Med Genet. 1994 May 1;50(4):339-43. doi: 10.1002/ajmg.1320500407. Am J Med Genet. 1994. PMID: 8209911 No abstract available.

10

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

Tsukahara M, Opitz JM. Tsukahara M, et al. Among authors: opitz jm. Am J Med Genet. 1996 May 3;63(1):277-89. doi: 10.1002/(SICI)1096-8628(19960503)63:1<277::AID-AJMG46>3.0.CO;2-I. Am J Med Genet. 1996. PMID: 8723121

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

476 results

Search Page

Filters