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    Results: 1 to 50 of 117

    1.

    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.

    J Med Genet. 2009 Oct 19. [Epub ahead of print]PMID: 19843505 [PubMed - as supplied by publisher]Related articles

    2.

    Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Crollius HR, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.

    Nat Genet. 2009 Mar;41(3):359-64. Epub 2009 Feb 22.PMID: 19234473 [PubMed - indexed for MEDLINE]Related articles

    3.

    Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

    Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC.

    Nat Genet. 2008 Nov;40(11):1341-7. Epub 2008 Oct 5.PMID: 18836445 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

    Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL.

    Am J Med Genet A. 2008 Nov 1;146A(21):2794-8.PMID: 18831064 [PubMed - indexed for MEDLINE]Related articles

    5.

    Human-specific gain of function in a developmental enhancer.

    Prabhakar S, Visel A, Akiyama JA, Shoukry M, Lewis KD, Holt A, Plajzer-Frick I, Morrison H, Fitzpatrick DR, Afzal V, Pennacchio LA, Rubin EM, Noonan JP.

    Science. 2008 Sep 5;321(5894):1346-50.PMID: 18772437 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

    Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC.

    Am J Hum Genet. 2008 Apr;82(4):916-26. Epub 2008 Mar 27. Erratum in: Am J Hum Genet. 2008 Apr;82(4):1019. PMID: 18374296 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Anophthalmia and microphthalmia.

    Verma AS, Fitzpatrick DR.

    Orphanet J Rare Dis. 2007 Nov 26;2:47. Review.PMID: 18039390 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    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.

    Am J Med Genet A. 2007 Dec 1;143A(23):2796-803.PMID: 17994567 [PubMed - indexed for MEDLINE]Related articles

    9.

    Comprehensive epigenetic profiling identifies multiple distal regulatory elements directing transcription of the gene encoding interferon-gamma.

    Schoenborn JR, Dorschner MO, Sekimata M, Santer DM, Shnyreva M, Fitzpatrick DR, Stamatoyannopoulos JA, Wilson CB.

    Nat Immunol. 2007 Jul;8(7):732-42. Epub 2007 Jun 3. Erratum in: Nat Immunol. 2007 Aug;8(8):893. Stamatoyonnapoulos, John A [corrected to Stamatoyannopoulos, John A]. Nat Immunol. 2008 Jan;9(1):105. PMID: 17546033 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

    Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, Levin AV, Selicorni A.

    Am J Med Genet A. 2007 Jun 15;143A(12):1287-96. Review. Erratum in: Am J Med Genet A. 2008 Oct 15;146A(20):2713. PMID: 17508425 [PubMed - indexed for MEDLINE]Related articles

    11.

    Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

    Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S, van Heyningen V.

    Eur J Hum Genet. 2007 Aug;15(8):898-901. Epub 2007 Apr 4.PMID: 17406642 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

    Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A.

    Am J Hum Genet. 2007 Mar;80(3):550-60. Epub 2007 Jan 29.PMID: 17273977 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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.

    Am J Hum Genet. 2007 Feb;80(2):221-31. Epub 2006 Dec 12.PMID: 17236128 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH.

    Keng WT, Harewood L, Grace E, Paxton C, Lam WW, Fitzpatrick DR.

    Am J Med Genet A. 2006 May 15;140(10):1111-3. No abstract available. PMID: 16596668 [PubMed - indexed for MEDLINE]Related articles

    15.

    Rapid demethylation of the IFN-gamma gene occurs in memory but not naive CD8 T cells.

    Kersh EN, Fitzpatrick DR, Murali-Krishna K, Shires J, Speck SH, Boss JM, Ahmed R.

    J Immunol. 2006 Apr 1;176(7):4083-93.PMID: 16547244 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

    Williamson KA, Hever AM, Rainger J, Rogers RC, Magee A, Fiedler Z, Keng WT, Sharkey FH, McGill N, Hill CJ, Schneider A, Messina M, Turnpenny PD, Fantes JA, van Heyningen V, FitzPatrick DR.

    Hum Mol Genet. 2006 May 1;15(9):1413-22. Epub 2006 Mar 16. Erratum in: Hum Mol Genet. 2006 Jun 15;15(12):2030. PMID: 16543359 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Role of SOX2 mutations in human hippocampal malformations and epilepsy.

    Sisodiya SM, Ragge NK, Cavalleri GL, Hever A, Lorenz B, Schneider A, Williamson KA, Stevens JM, Free SL, Thompson PJ, van Heyningen V, Fitzpatrick DR.

    Epilepsia. 2006 Mar;47(3):534-42.PMID: 16529618 [PubMed - indexed for MEDLINE]Related articles

    18.

    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 V, Fitzpatrick DR.

    Am J Med Genet A. 2006 Mar 15;140(6):636-9. No abstract available. PMID: 16470798 [PubMed - indexed for MEDLINE]Related articles

    19.

    Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

    Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC.

    PLoS Genet. 2005 Dec;1(6):e64. Epub 2005 Dec 2.PMID: 16327884 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Chromosome analysis: what and when to request.

    Sharkey FH, Maher E, FitzPatrick DR.

    Arch Dis Child. 2005 Dec;90(12):1264-9. Review.PMID: 16301555 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    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.

    Am J Hum Genet. 2005 Jul;77(1):154-60. Epub 2005 May 25.PMID: 15918153 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    Developmental eye disorders.

    Fitzpatrick DR, van Heyningen V.

    Curr Opin Genet Dev. 2005 Jun;15(3):348-53. Review.PMID: 15917212 [PubMed - indexed for MEDLINE]Related articles

    23.

    Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects.

    FitzPatrick DR.

    Trends Genet. 2005 May;21(5):249-53. Review.PMID: 15851056 [PubMed - indexed for MEDLINE]Related articles

    24.

    Heterozygous mutations of OTX2 cause severe ocular malformations.

    Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM.

    Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. PMID: 15846561 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    SOX2 anophthalmia syndrome.

    Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR.

    Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8.PMID: 15812812 [PubMed - indexed for MEDLINE]Related articles

    26.

    Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.

    Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.

    Am J Med Genet A. 2005 Feb 1;132(4):402-10. Review.PMID: 15742475 [PubMed - indexed for MEDLINE]Related articles

    27.

    DNA methylation and the expanding epigenetics of T cell lineage commitment.

    Wilson CB, Makar KW, Shnyreva M, Fitzpatrick DR.

    Semin Immunol. 2005 Apr;17(2):105-19. Review.PMID: 15737572 [PubMed - indexed for MEDLINE]Related articles

    28.

    Hypermethylation of the 5' CpG island of the gene encoding the serine protease Testisin promotes its loss in testicular tumorigenesis.

    Manton KJ, Douglas ML, Netzel-Arnett S, Fitzpatrick DR, Nicol DL, Boyd AW, Clements JA, Antalis TM.

    Br J Cancer. 2005 Feb 28;92(4):760-9.PMID: 15685234 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    Paradoxical role of programmed death-1 ligand 2 in Th2 immune responses in vitro and in a mouse asthma model in vivo.

    Oflazoglu E, Swart DA, Anders-Bartholo P, Jessup HK, Norment AM, Lawrence WA, Brasel K, Tocker JE, Horan T, Welcher AA, Fitzpatrick DR.

    Eur J Immunol. 2004 Dec;34(12):3326-36.PMID: 15484188 [PubMed - indexed for MEDLINE]Related articles

    30.

    An excess of chromosome 1 breakpoints in male infertility.

    Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N.

    Eur J Hum Genet. 2004 Dec;12(12):993-1000.PMID: 15367911 [PubMed - indexed for MEDLINE]Related articlesFree article

    31.

    Evolutionarily conserved sequence elements that positively regulate IFN-gamma expression in T cells.

    Shnyreva M, Weaver WM, Blanchette M, Taylor SL, Tompa M, Fitzpatrick DR, Wilson CB.

    Proc Natl Acad Sci U S A. 2004 Aug 24;101(34):12622-7. Epub 2004 Aug 10.PMID: 15304658 [PubMed - indexed for MEDLINE]Related articlesFree article

    32.

    Active recruitment of DNA methyltransferases regulates interleukin 4 in thymocytes and T cells.

    Makar KW, Pérez-Melgosa M, Shnyreva M, Weaver WM, Fitzpatrick DR, Wilson CB.

    Nat Immunol. 2003 Dec;4(12):1183-90. Epub 2003 Nov 2.PMID: 14595437 [PubMed - indexed for MEDLINE]Related articles

    33.

    Methylation and demethylation in the regulation of genes, cells, and responses in the immune system.

    Fitzpatrick DR, Wilson CB.

    Clin Immunol. 2003 Oct;109(1):37-45. Review.PMID: 14585274 [PubMed - indexed for MEDLINE]Related articles

    34.

    A3243G mitochondrial mutation associated with polymicrogyria.

    Keng WT, Pilz DT, Minns B, FitzPatrick DR.

    Dev Med Child Neurol. 2003 Oct;45(10):704-8.PMID: 14515943 [PubMed - indexed for MEDLINE]Related articles

    35.

    MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

    Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR, FitzPatrick DR.

    Hum Mutat. 2003 Oct;22(4):288-300.PMID: 12955715 [PubMed - indexed for MEDLINE]Related articles

    36.

    Identification of SATB2 as the cleft palate gene on 2q32-q33.

    FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, Gautier P, McGill N, Hayward C, Firth H, Markham AF, Fantes JA, Bonthron DT.

    Hum Mol Genet. 2003 Oct 1;12(19):2491-501. Epub 2003 Jul 29.PMID: 12915443 [PubMed - indexed for MEDLINE]Related articlesFree article

    37.

    De novo translocation (1; 2)(q32; p25) associated with bilateral renal dysplasia.

    Joss S, Howatson A, Trainer A, Whiteford M, FitzPatrick DR.

    Clin Genet. 2003 Mar;63(3):239-40. No abstract available. PMID: 12694239 [PubMed - indexed for MEDLINE]Related articles

    38.

    Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.

    Santer R, Fingerhut R, Lässker U, Wightman PJ, Fitzpatrick DR, Olgemöller B, Roscher AA.

    Clin Chem. 2003 Apr;49(4):660-2. No abstract available. PMID: 12651823 [PubMed - indexed for MEDLINE]Related articlesFree article

    39.

    Mutations in SOX2 cause anophthalmia.

    Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR.

    Nat Genet. 2003 Apr;33(4):461-3. Epub 2003 Mar 3.PMID: 12612584 [PubMed - indexed for MEDLINE]Related articles

    40.

    Single-cell perforin and granzyme expression reveals the anatomical localization of effector CD8+ T cells in influenza virus-infected mice.

    Johnson BJ, Costelloe EO, Fitzpatrick DR, Haanen JB, Schumacher TN, Brown LE, Kelso A.

    Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2657-62. Epub 2003 Feb 24.PMID: 12601154 [PubMed - indexed for MEDLINE]Related articlesFree article

    41.

    Murine plasmacytoid pre-dendritic cells generated from Flt3 ligand-supplemented bone marrow cultures are immature APCs.

    Brawand P, Fitzpatrick DR, Greenfield BW, Brasel K, Maliszewski CR, De Smedt T.

    J Immunol. 2002 Dec 15;169(12):6711-9.PMID: 12471102 [PubMed - indexed for MEDLINE]Related articlesFree article

    42.

    Transcriptome analysis of human autosomal trisomy.

    FitzPatrick DR, Ramsay J, McGill NI, Shade M, Carothers AD, Hastie ND.

    Hum Mol Genet. 2002 Dec 15;11(26):3249-56.PMID: 12471051 [PubMed - indexed for MEDLINE]Related articlesFree article

    43.

    Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).

    Morrison DA, FitzPatrick DR, Fleck BW.

    Br J Ophthalmol. 2002 Nov;86(11):1316. No abstract available. PMID: 12386101 [PubMed - indexed for MEDLINE]Related articlesFree article

    44.

    Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.

    Brewer CM, Holloway SH, Stone DH, Carothers AD, FitzPatrick DR.

    J Med Genet. 2002 Sep;39(9):e54. No abstract available. PMID: 12205124 [PubMed - indexed for MEDLINE]Related articlesFree article

    45.

    The genes for perforin, granzymes A-C and IFN-gamma are differentially expressed in single CD8(+) T cells during primary activation.

    Kelso A, Costelloe EO, Johnson BJ, Groves P, Buttigieg K, Fitzpatrick DR.

    Int Immunol. 2002 Jun;14(6):605-13.PMID: 12039912 [PubMed - indexed for MEDLINE]Related articlesFree article

    46.

    Symmetrical upper limb peromelia and lower limb phocomelia associated with a de novo apparently balanced reciprocal translocation: 46,XX,t(2; 12)(p25.1;q24.1).

    Murray RS, Keeling JW, Ellis PM, FitzPatrick DR.

    Clin Dysmorphol. 2002 Apr;11(2):87-90.PMID: 12002154 [PubMed - indexed for MEDLINE]Related articles

    47.

    A school based study of children with learning disability indicates poor levels of genetic investigation.

    FitzPatrick DR, Pearson P, Halpin S, Jackson P.

    J Med Genet. 2002 Apr;39(4):e19. No abstract available. PMID: 11950871 [PubMed - indexed for MEDLINE]Related articlesFree article

    48.

    A critical role for Dnmt1 and DNA methylation in T cell development, function, and survival.

    Lee PP, Fitzpatrick DR, Beard C, Jessup HK, Lehar S, Makar KW, Pérez-Melgosa M, Sweetser MT, Schlissel MS, Nguyen S, Cherry SR, Tsai JH, Tucker SM, Weaver WM, Kelso A, Jaenisch R, Wilson CB.

    Immunity. 2001 Nov;15(5):763-74.PMID: 11728338 [PubMed - indexed for MEDLINE]Related articles

    49.

    Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

    Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ.

    Am J Hum Genet. 2001 Oct;69(4):685-94. Epub 2001 Aug 22.PMID: 11519011 [PubMed - indexed for MEDLINE]Related articlesFree article

    50.

    Dengue virus binding to human leukocyte cell lines: receptor usage differs between cell types and virus strains.

    Bielefeldt-Ohmann H, Meyer M, Fitzpatrick DR, Mackenzie JS.

    Virus Res. 2001 Jan;73(1):81-9.PMID: 11163646 [PubMed - indexed for MEDLINE]Related articles

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