McGaughran JM - Search Results

1

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.

McGaughran JM, Gaunt L, Dore J, Petrij F, Dauwerse HG, Donnai D. McGaughran JM, et al. J Med Genet. 1996 Jan;33(1):82-3. doi: 10.1136/jmg.33.1.82. J Med Genet. 1996. PMID: 8825057 Free PMC article.

2

Prenatal diagnosis of Smith-Lemli-Opitz syndrome.

McGaughran JM, Clayton PT, Mills KA, Rimmer S, Moore L, Donnai D. McGaughran JM, et al. Am J Med Genet. 1995 Apr 10;56(3):269-71. doi: 10.1002/ajmg.1320560306. Am J Med Genet. 1995. PMID: 7778587

3

Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence.

Rosser EM, Wilkinson AR, Hurst JA, McGaughran JM, Donnai D. Rosser EM, et al. Among authors: mcgaughran jm. Am J Med Genet. 1995 Sep 11;58(3):217-21. doi: 10.1002/ajmg.1320580304. Am J Med Genet. 1995. PMID: 8533820

4

A clinical study of type 1 neurofibromatosis in north west England.

McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, Kingston H, Super M, Harris R, Evans DG. McGaughran JM, et al. J Med Genet. 1999 Mar;36(3):197-203. J Med Genet. 1999. PMID: 10204844 Free PMC article.

5

Syndactyly, micrognathia and skeletal anomalies: a new syndrome?

McGaughran J, Moore L, Russell S, Donnai D. McGaughran J, et al. Clin Dysmorphol. 1998 Apr;7(2):119-22. doi: 10.1097/00019605-199804000-00007. Clin Dysmorphol. 1998. PMID: 9571282

6

Biliary atresia in Kabuki syndrome.

McGaughran JM, Donnai D, Clayton-Smith J. McGaughran JM, et al. Am J Med Genet. 2000 Mar 13;91(2):157-8. Am J Med Genet. 2000. PMID: 10748418 No abstract available.

7

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M. McGaughran JM, et al. Eur J Hum Genet. 2003 Jun;11(6):468-74. doi: 10.1038/sj.ejhg.5200987. Eur J Hum Genet. 2003. PMID: 12774041

8

WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).

McGaughran JM, Ward HB, Evans DG. McGaughran JM, et al. J Med Genet. 1995 Oct;32(10):823-4. doi: 10.1136/jmg.32.10.823. J Med Genet. 1995. PMID: 8558565 Free PMC article.

9

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: mcgaughran j. 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

10

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA. Tassabehji M, et al. Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741. Hum Mutat. 2008. PMID: 18425797

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