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Items: 1 to 50 of 514

1.

Pillars Article: Isolation of a Novel Gene Mutated in Wiskott-Aldrich Syndrome. Cell. 1994. 78: 635-644.

Derry JMJ, Ochs HD, Francke U.

J Immunol. 2018 Jun 1;200(11):3671-3680. No abstract available.

2.

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.

Bieber FR, Cherry AM, Emanuel BS, Francke U, Hoyme HE, Jackson LG, Morton CC, Muenke M, Powell CM, Punnett HH, Rao PN, Schwartz S, Stevenson RE, Van Dyke DL.

Genet Med. 2017 Mar;19(3):294-296. doi: 10.1038/gim.2016.171. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):483.

PMID:
27854359
3.

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.

Hinds DA, Barnholt KE, Mesa RA, Kiefer AK, Do CB, Eriksson N, Mountain JL, Francke U, Tung JY, Nguyen HM, Zhang H, Gojenola L, Zehnder JL, Gotlib J.

Blood. 2016 Aug 25;128(8):1121-8. doi: 10.1182/blood-2015-06-652941. Epub 2016 Jun 30.

4.

How will genomic information become integrated into the health care system?

Francke U.

Mol Genet Genomic Med. 2013 Jul;1(2):67-70. doi: 10.1002/mgg3.26. No abstract available.

5.

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

Hinds DA, McMahon G, Kiefer AK, Do CB, Eriksson N, Evans DM, St Pourcain B, Ring SM, Mountain JL, Francke U, Davey-Smith G, Timpson NJ, Tung JY.

Nat Genet. 2013 Aug;45(8):907-11. doi: 10.1038/ng.2686. Epub 2013 Jun 30.

6.

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL.

PeerJ. 2013 Feb 12;1:e8. doi: 10.7717/peerj.8. Print 2013.

7.

Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

Tung JY, Kiefer AK, Mullins M, Francke U, Eriksson N.

J Invest Dermatol. 2013 Nov;133(11):2628-2631. doi: 10.1038/jid.2013.196. Epub 2013 Apr 30. No abstract available.

8.

2012 William Allan Award: Adventures in cytogenetics.

Francke U.

Am J Hum Genet. 2013 Mar 7;92(3):325-37. doi: 10.1016/j.ajhg.2013.01.010. No abstract available.

9.

Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia.

Kiefer AK, Tung JY, Do CB, Hinds DA, Mountain JL, Francke U, Eriksson N.

PLoS Genet. 2013;9(2):e1003299. doi: 10.1371/journal.pgen.1003299. Epub 2013 Feb 28.

10.

Comparison of family history and SNPs for predicting risk of complex disease.

Do CB, Hinds DA, Francke U, Eriksson N.

PLoS Genet. 2012;8(10):e1002973. doi: 10.1371/journal.pgen.1002973. Epub 2012 Oct 11.

11.

Genetic variants associated with breast size also influence breast cancer risk.

Eriksson N, Benton GM, Do CB, Kiefer AK, Mountain JL, Hinds DA, Francke U, Tung JY.

BMC Med Genet. 2012 Jun 30;13:53. doi: 10.1186/1471-2350-13-53.

12.

Novel associations for hypothyroidism include known autoimmune risk loci.

Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB.

PLoS One. 2012;7(4):e34442. doi: 10.1371/journal.pone.0034442. Epub 2012 Apr 6.

13.

Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

Campuzano V, Segura-Puimedon M, Terrado V, Sánchez-Rodríguez C, Coustets M, Menacho-Márquez M, Nevado J, Bustelo XR, Francke U, Pérez-Jurado LA.

PLoS Genet. 2012 Feb;8(2):e1002458. doi: 10.1371/journal.pgen.1002458. Epub 2012 Feb 2.

14.

Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.

Quarto N, Leonard B, Li S, Marchand M, Anderson E, Behr B, Francke U, Reijo-Pera R, Chiao E, Longaker MT.

Proc Natl Acad Sci U S A. 2012 Jan 3;109(1):215-20. doi: 10.1073/pnas.1113442109. Epub 2011 Dec 16.

15.

Efficient replication of over 180 genetic associations with self-reported medical data.

Tung JY, Do CB, Hinds DA, Kiefer AK, Macpherson JM, Chowdry AB, Francke U, Naughton BT, Mountain JL, Wojcicki A, Eriksson N.

PLoS One. 2011;6(8):e23473. doi: 10.1371/journal.pone.0023473. Epub 2011 Aug 17.

16.

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U, Mountain JL, Goldman SM, Tanner CM, Langston JW, Wojcicki A, Eriksson N.

PLoS Genet. 2011 Jun;7(6):e1002141. doi: 10.1371/journal.pgen.1002141. Epub 2011 Jun 23.

17.

The new Ghent criteria for Marfan syndrome: what do they change?

Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson PN, De Backer J, Coucke P, Francke U, Bouchot O, Wolf JE, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G.

Clin Genet. 2012 May;81(5):433-42. doi: 10.1111/j.1399-0004.2011.01703.x. Epub 2011 Jun 2.

18.

Control of bone formation by the serpentine receptor Frizzled-9.

Albers J, Schulze J, Beil FT, Gebauer M, Baranowsky A, Keller J, Marshall RP, Wintges K, Friedrich FW, Priemel M, Schilling AF, Rueger JM, Cornils K, Fehse B, Streichert T, Sauter G, Jakob F, Insogna KL, Pober B, Knobeloch KP, Francke U, Amling M, Schinke T.

J Cell Biol. 2011 Mar 21;192(6):1057-72. doi: 10.1083/jcb.201008012. Epub 2011 Mar 14.

19.

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

Stheneur C, Faivre L, Collod-Béroud G, Gautier E, Binquet C, Bonithon-Kopp C, Claustres M, Child AH, Arbustini E, Adès LC, Francke U, Mayer K, Arslan-Kirchner M, De Paepe A, Chevallier B, Bonnet D, Jondeau G, Boileau C.

Pediatr Res. 2011 Mar;69(3):265-70. doi: 10.1203/PDR.0b013e3182097219.

20.

Induced chromosome deletion in a Williams-Beuren syndrome mouse model causes cardiovascular abnormalities.

Goergen CJ, Li HH, Francke U, Taylor CA.

J Vasc Res. 2011;48(2):119-29. doi: 10.1159/000316808. Epub 2010 Oct 7.

21.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G.

Eur Heart J. 2010 Sep;31(18):2223-9. doi: 10.1093/eurheartj/ehq258. Epub 2010 Aug 13.

22.

Neonatal maternal deprivation response and developmental changes in gene expression revealed by hypothalamic gene expression profiling in mice.

Ding F, Li HH, Li J, Myers RM, Francke U.

PLoS One. 2010 Feb 24;5(2):e9402. doi: 10.1371/journal.pone.0009402.

23.

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice.

Li HH, Roy M, Kuscuoglu U, Spencer CM, Halm B, Harrison KC, Bayle JH, Splendore A, Ding F, Meltzer LA, Wright E, Paylor R, Deisseroth K, Francke U.

EMBO Mol Med. 2009 Apr;1(1):50-65. doi: 10.1002/emmm.200900003.

24.

On the bumpy road towards 'personalized medicine'.

Francke U.

EMBO Mol Med. 2010 Jan;2(1):1-2. doi: 10.1002/emmm.200900056. No abstract available.

25.

The influence of different irradiation doses and desensitizer application on demineralization of human dentin.

Bekes K, Francke U, Schaller HG, Kuhnt T, Gerlach R, Vordermark D, Gernhardt CR.

Oral Oncol. 2009 Sep;45(9):e80-4. doi: 10.1016/j.oraloncology.2009.03.005. Epub 2009 May 12.

PMID:
19442566
26.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.

Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809.

27.

Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks.

Belichenko PV, Wright EE, Belichenko NP, Masliah E, Li HH, Mobley WC, Francke U.

J Comp Neurol. 2009 May 20;514(3):240-58. doi: 10.1002/cne.22009.

PMID:
19296534
28.

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.

Pediatrics. 2009 Jan;123(1):391-8. doi: 10.1542/peds.2008-0703.

29.

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Apr;17(4):491-501. doi: 10.1038/ejhg.2008.207. Epub 2008 Nov 12.

30.

Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

Schüle B, Armstrong DD, Vogel H, Oviedo A, Francke U.

Clin Genet. 2008 Aug;74(2):116-26. doi: 10.1111/j.1399-0004.2008.01005.x. Epub 2008 May 8. Review.

PMID:
18477000
31.

SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice.

Ding F, Li HH, Zhang S, Solomon NM, Camper SA, Cohen P, Francke U.

PLoS One. 2008 Mar 5;3(3):e1709. doi: 10.1371/journal.pone.0001709.

32.

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G.

J Med Genet. 2008 Jun;45(6):384-90. doi: 10.1136/jmg.2007.056382. Epub 2008 Feb 29.

33.

Comparative study of brain morphology in Mecp2 mutant mouse models of Rett syndrome.

Belichenko NP, Belichenko PV, Li HH, Mobley WC, Francke U.

J Comp Neurol. 2008 May 1;508(1):184-95. doi: 10.1002/cne.21673.

PMID:
18306326
34.

A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.

Yao Z, Jaeger JC, Ruzzo WL, Morale CZ, Emond M, Francke U, Milewicz DM, Schwartz SM, Mulvihill ER.

BMC Genomics. 2007 Sep 12;8:319.

35.

DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency.

Schüle B, Li HH, Fisch-Kohl C, Purmann C, Francke U.

Am J Hum Genet. 2007 Sep;81(3):492-506. Epub 2007 Aug 2.

36.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C.

Am J Hum Genet. 2007 Sep;81(3):454-66. Epub 2007 Jul 25.

37.
38.

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.

J Med Genet. 2007 Feb;44(2):136-43. Epub 2006 Sep 13.

39.

Mechanisms of disease: neurogenetics of MeCP2 deficiency.

Francke U.

Nat Clin Pract Neurol. 2006 Apr;2(4):212-21. Review.

PMID:
16932552
40.

Ube3a expression is not altered in Mecp2 mutant mice.

Jordan C, Francke U.

Hum Mol Genet. 2006 Jul 15;15(14):2210-5. Epub 2006 Jun 5.

PMID:
16754645
41.

Identification of cis-regulatory elements for MECP2 expression.

Liu J, Francke U.

Hum Mol Genet. 2006 Jun 1;15(11):1769-82. Epub 2006 Apr 13.

PMID:
16613900
42.

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

Arron JR, Winslow MM, Polleri A, Chang CP, Wu H, Gao X, Neilson JR, Chen L, Heit JJ, Kim SK, Yamasaki N, Miyakawa T, Francke U, Graef IA, Crabtree GR.

Nature. 2006 Jun 1;441(7093):595-600. Epub 2006 Mar 22.

PMID:
16554754
43.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.

Am J Hum Genet. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31.

44.

Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models.

Ding F, Prints Y, Dhar MS, Johnson DK, Garnacho-Montero C, Nicholls RD, Francke U.

Mamm Genome. 2005 Jun;16(6):424-31.

PMID:
16075369
45.

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.

Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U.

BMC Med Genet. 2005 May 6;6:18.

46.

Frizzled 9 knock-out mice have abnormal B-cell development.

Ranheim EA, Kwan HC, Reya T, Wang YK, Weissman IL, Francke U.

Blood. 2005 Mar 15;105(6):2487-94. Epub 2004 Nov 30.

PMID:
15572594
47.

Normal histone modifications on the inactive X chromosome in ICF and Rett syndrome cells: implications for methyl-CpG binding proteins.

Gartler SM, Varadarajan KR, Luo P, Canfield TK, Traynor J, Francke U, Hansen RS.

BMC Biol. 2004 Sep 20;2:21.

48.

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.

Traynor J, Agarwal P, Lazzeroni L, Francke U.

BMC Med Genet. 2002 Nov 5;3:12. Epub 2002 Nov 5.

49.

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.

Gallagher RC, Pils B, Albalwi M, Francke U.

Am J Hum Genet. 2002 Sep;71(3):669-78. Epub 2002 Jul 31.

50.

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.

Am J Hum Genet. 2002 Aug;71(2):223-37. Epub 2002 Jun 14.

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