Search Results

There are 14469 results for: content related to: Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

  1. Composition and petrology of HED polymict breccias: The regolith of (4) Vesta

    Meteoritics & Planetary Science

    Volume 48, Issue 11, November 2013, Pages: 2105–2134, David W. Mittlefehldt, Jason S. Herrin, Julie E. Quinn, Stanley A. Mertzman, Julia A. Cartwright, Karen R. Mertzman and Zhan X. Peng

    Article first published online : 27 NOV 2013, DOI: 10.1111/maps.12182

    Corrected by:

    Erratum: Erratum

    Vol. 49, Issue 1, 133, Article first published online: 21 JAN 2014

  2. Chemical characterization of ancient pottery from sudan by x-ray fluorescence spectrometry (xrf), electron microprobe analyses (empa) and inductively coupled plasma mass spectrometry (ICP–MS)

    Archaeometry

    Volume 46, Issue 3, August 2004, Pages: 339–356, M. Klein, F. Jesse, H. U. Kasper and A. Gölden

    Article first published online : 7 SEP 2004, DOI: 10.1111/j.1475-4754.2004.00162.x

  3. Sublacustrine depositional fans in southwest Melas Chasma

    Journal of Geophysical Research: Planets (1991–2012)

    Volume 114, Issue E10, October 2009, Joannah M. Metz, John P. Grotzinger, David Mohrig, Ralph Milliken, Bradford Prather, Carlos Pirmez, Alfred S. McEwen and Catherine M. Weitz

    Article first published online : 14 OCT 2009, DOI: 10.1029/2009JE003365

  4. Interplanetary coronal mass ejections that are undetected by solar coronagraphs

    Journal of Geophysical Research: Space Physics (1978–2012)

    Volume 113, Issue A8, August 2008, T. A. Howard and G. M. Simnett

    Article first published online : 2 AUG 2008, DOI: 10.1029/2007JA012920

  5. Evolution of cave living in Hawaiian Schrankia (Lepidoptera: Noctuidae) with description of a remarkable new cave species

    Zoological Journal of the Linnean Society

    Volume 156, Issue 1, May 2009, Pages: 114–139, MATTHEW J. MEDEIROS, DON DAVIS, FRANCIS G. HOWARTH and ROSEMARY GILLESPIE

    Article first published online : 20 APR 2009, DOI: 10.1111/j.1096-3642.2008.00477.x

  6. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1719–1725, Haruya Sakai, Remco Visser, Shiro Ikegawa, Etsuro Ito, Hironao Numabe, Yoriko Watanabe, Haruo Mikami, Tatsuro Kondoh, Hiroshi Kitoh, Ryusuke Sugiyama, Nobuhiko Okamoto, Tsutomu Ogata, Riccardo Fodde, Seiji Mizuno, Kyoko Takamura, Masayuki Egashira, Nozomu Sasaki, Sachiro Watanabe, Shigeru Nishimaki, Fumio Takada, Toshiro Nagai, Yasushi Okada, Yoshikazu Aoka, Kazushi Yasuda, Mitsuji Iwasa, Shigetoyo Kogaki, Naoki Harada, Takeshi Mizuguchi and Naomichi Matsumoto

    Article first published online : 11 JUL 2006, DOI: 10.1002/ajmg.a.31353

  7. Ectopia lentis phenotypes and the FBN1 gene

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 3, 30 April 2004, Pages: 284–289, Lesley C. Adès, Katherine J. Holman, Maggie S. Brett, Matthew J. Edwards and Bruce Bennetts

    Article first published online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20605

  8. Improving the Stability of Probiotic Bacteria in Model Fruit Juices Using Vitamins and Antioxidants

    Journal of Food Science

    Volume 75, Issue 5, June/July 2010, Pages: M278–M282, N.P. Shah, W.K. Ding, M.J. Fallourd and G. Leyer

    Article first published online : 9 JUN 2010, DOI: 10.1111/j.1750-3841.2010.01628.x

  9. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

  10. 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

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 854–860, L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, B.L. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Stheneur, O. Bouchot, J.E. Wolf, P.N. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau and G. Jondeau

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32809

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

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 433–442, L Faivre, G Collod-Beroud, L Adès, E Arbustini, A Child, BL Callewaert, B Loeys, C Binquet, E Gautier, K Mayer, M Arslan-Kirchner, M Grasso, C Beroud, D Hamroun, C Bonithon-Kopp, H Plauchu, PN Robinson, J De Backer, P Coucke, U Francke, O Bouchot, JE Wolf, C Stheneur, N Hanna, D Detaint, A De Paepe, C Boileau and G Jondeau

    Article first published online : 2 JUN 2011, DOI: 10.1111/j.1399-0004.2011.01703.x

  12. Associations between mycophagous Drosophila and their Howardula nematode parasites: a worldwide phylogenetic shuffle

    Molecular Ecology

    Volume 12, Issue 1, January 2003, Pages: 237–249, Steve J. Perlman, Greg S. Spicer, D. Dewayne Shoemaker and John Jaenike

    Article first published online : 19 DEC 2002, DOI: 10.1046/j.1365-294X.2003.01721.x

  13. FBN1 mutations in patients with descending thoracic aortic dissections

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 413–416, Ariel Brautbar, Scott A. LeMaire, Luis M. Franco, Joseph S. Coselli, Dianna M. Milewicz and John W. Belmont

    Article first published online : 15 JAN 2010, DOI: 10.1002/ajmg.a.32856

  14. Mineralogical characterization of some V-type asteroids, in support of the NASA Dawn mission

    Monthly Notices of the Royal Astronomical Society

    Volume 412, Issue 4, April 2011, Pages: 2318–2332, Maria Cristina De Sanctis, Eleonora Ammannito, Alessandra Migliorini, Daniela Lazzaro, Maria Teresa Capria and Lucy McFadden

    Article first published online : 7 MAR 2011, DOI: 10.1111/j.1365-2966.2010.18058.x

  15. Revision of the genus Innobindus Jacobi (Hemiptera: Fulgoromorpha: Cixiidae) with the description of six new species and comments on other Australian Brixiini genera

    Australian Journal of Entomology

    Volume 46, Issue 1, February 2007, Pages: 45–55, Birgit Löcker, Murray J Fletcher and Geoff M Gurr

    Article first published online : 4 JAN 2007, DOI: 10.1111/j.1440-6055.2007.00586.x

  16. TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

    Human Mutation

    Volume 20, Issue 3, September 2002, Pages: 197–208, Stefanie Katzke, Patrick Booms, Frank Tiecke, Monika Palz, Angelika Pletschacher, Seval Türkmen, Luitgard M. Neumann, Reinhard Pregla, Christa Leitner, Cornelia Schramm, Peter Lorenz, Christian Hagemeier, Josefine Fuchs, Flemming Skovby, Thomas Rosenberg and Peter N. Robinson

    Article first published online : 21 AUG 2002, DOI: 10.1002/humu.10112

  17. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Clinical Genetics

    S Sheikhzadeh, C Sondermann, M Rybczynski, CR Habermann, L Brockstaedt, B Keyser, H Kaemmerer, T Mir, A Staebler, PN Robinson, K Kutsche, J Berger, S Blankenberg and Y von Kodolitsch

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12264

  18. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

    Human Mutation

    Volume 24, Issue 2, August 2004, Pages: 140–146, B. Loeys, J. De Backer, P. Van Acker, K. Wettinck, G. Pals, L. Nuytinck, P. Coucke and A. De Paepe

    Article first published online : 21 JUN 2004, DOI: 10.1002/humu.20070

  19. Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 1968–1977, Svend Rand-Hendriksen, Lena Tjeldhorn, Rigmor Lundby, Svein Ove Semb, Jon Offstad, Kai Andersen, Odd Geiran and Benedicte Paus

    Article first published online : 30 JUL 2007, DOI: 10.1002/ajmg.a.31759

  20. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome

    Clinical Genetics

    Volume 77, Issue 5, May 2010, Pages: 453–463, S-C Chao, J-S Chen, C-H Tsai, JY-M Lin, Y-J Lin and HS Sun

    Article first published online : 4 FEB 2010, DOI: 10.1111/j.1399-0004.2009.01337.x