FitzPatrick D - Search Results

1

FRA18C: a new aphidicolin-inducible fragile site on chromosome 18q22, possibly associated with in vivo chromosome breakage.

Debacker K, Winnepenninckx B, Ben-Porat N, FitzPatrick D, Van Luijk R, Scheers S, Kerem B, Frank Kooy R. Debacker K, et al. Among authors: fitzpatrick d. J Med Genet. 2007 May;44(5):347-52. doi: 10.1136/jmg.2006.044628. J Med Genet. 2007. PMID: 17475918 Free PMC article.

2

CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF. Winnepenninckx B, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 2007 Feb;80(2):221-31. doi: 10.1086/510800. Epub 2006 Dec 12. Am J Hum Genet. 2007. PMID: 17236128 Free PMC article.

3

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.

Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Lirussi F, et al. Among authors: fitzpatrick dr. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567

4

A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR. Metsu S, et al. Among authors: fitzpatrick dr. Hum Mutat. 2014 Nov;35(11):1295-300. doi: 10.1002/humu.22683. Hum Mutat. 2014. PMID: 25196122

5

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.

Göhring I, Tagariello A, Endele S, Stolt CC, Ghassibé M, Fisher M, Thiel CT, Trautmann U, Vikkula M, Winterpacht A, FitzPatrick DR, Rauch A. Göhring I, et al. J Med Genet. 2010 Feb;47(2):91-8. doi: 10.1136/jmg.2009.069799. Epub 2009 Oct 19. J Med Genet. 2010. PMID: 19843505

6

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.

Faivre L, Williamson KA, Faber V, Laurent N, Grimaldi M, Thauvin-Robinet C, Durand C, Mugneret F, Gouyon JB, Bron A, Huet F, Hayward C, Heyningen Vv, Fitzpatrick DR. Faivre L, et al. Am J Med Genet A. 2006 Mar 15;140(6):636-9. doi: 10.1002/ajmg.a.31114. Am J Med Genet A. 2006. PMID: 16470798 No abstract available.

7

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Ansari M, Rainger JK, Murray JE, Hanson I, Firth HV, Mehendale F, Amiel J, Gordon CT, Percesepe A, Mazzanti L, Fryer A, Ferrari P, Devriendt K, Temple IK, FitzPatrick DR. Ansari M, et al. Eur J Med Genet. 2014 Oct;57(10):587-95. doi: 10.1016/j.ejmg.2014.08.007. Epub 2014 Sep 3. Eur J Med Genet. 2014. PMID: 25195018

8

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. Asadollahi R, et al. Among authors: fitzpatrick d. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8. J Med Genet. 2014. PMID: 25106414 Free PMC article.

9

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.

Male A, Davies A, Bergbaum A, Keeling J, FitzPatrick D, Mackie Ogilvie C, Berg J. Male A, et al. Among authors: fitzpatrick d. Eur J Hum Genet. 2002 Dec;10(12):807-12. doi: 10.1038/sj.ejhg.5200890. Eur J Hum Genet. 2002. PMID: 12461687

10

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.

Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. Willatt L, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25. Am J Hum Genet. 2005. PMID: 15918153 Free PMC article.

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