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There are 8748 results for: content related to: A girl with distinctive features of borderline high blood pressure, short stature, characteristic brachydactyly, and 11.47 Mb deletion in 12p11.21–12p12.2 by oligonucleotide array CGH

  1. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 728–740, Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger Ladda, Susan Sell, Judith Martin, Shawnia Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan-Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye, Bénédicte Heron-Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloes, Bertrand Isidor, Cedric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif and Lisa G. Shaffer

    Version of Record online : 12 MAR 2012, DOI: 10.1002/humu.22037

  2. A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

    American Journal of Medical Genetics Part A

    Volume 155, Issue 7, July 2011, Pages: 1745–1752, Yasemin Soysal, Joris Vermeesch, Nooshin Ardeshir Davani, Kuyaş Hekimler and Necat İmirzalıoğlu

    Version of Record online : 27 MAY 2011, DOI: 10.1002/ajmg.a.34101

  3. The brachydactylies: a molecular disease family

    Clinical Genetics

    Volume 76, Issue 2, August 2009, Pages: 123–136, S Mundlos

    Version of Record online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01238.x

  4. Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the jirel ethnic group in eastern nepal

    American Journal of Human Biology

    Volume 25, Issue 6, November/December 2013, Pages: 743–750, Kimberly D. Williams, John Blangero, Janardan Subedi, Bharat Jha, Thomas Dyer, John L. Vandeberg, Bradford Towne and Sarah Williams-Blangero

    Version of Record online : 10 SEP 2013, DOI: 10.1002/ajhb.22441

  5. Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 256–262, R.J.H. Galjaard, L.I. van der Ham, N.A.S. Posch, P.F. Dijkstra, B.A. Oostra, S.E.R. Hovius, E.J.F. Timmenga, G.J. Sonneveld, A.J.M. Hoogeboom and P. Heutink

    Version of Record online : 12 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<256::AID-AJMG1088>3.0.CO;2-D

  6. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 4, 1 February 2004, Pages: 356–363, Georg C. Schwabe, Seval Türkmen, Gundula Leschik, Sukru Palanduz, Brigitte Stöver, Timm O. Goecke and Stefan Mundlos

    Version of Record online : 18 JUL 2003, DOI: 10.1002/ajmg.a.20349

  7. Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 2, 15 April 2004, Pages: 204–207, Fiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, Matteo Della Monica, Fortunato Lonardo, Domenico Cuda, Giacomo Banchini, John M. Opitz and Giovanni Neri

    Version of Record online : 21 OCT 2003, DOI: 10.1002/ajmg.a.20575

  8. Is brachydactyly type Ballard a variant of brachydactyly type E?

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 95–97, Kimberly Jensen and Joe J. Hoo

    Version of Record online : 7 JUN 2004, DOI: 10.1002/ajmg.a.30159

  9. Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1826–1829, Patricia G. Wheeler, Dongli Huang and Zunyan Dai

    Version of Record online : 8 APR 2014, DOI: 10.1002/ajmg.a.36542

  10. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

    American Journal of Medical Genetics Part A

    Volume 170, Issue 7, July 2016, Pages: 1820–1825, Christine M. Armour, Amanda Smith, Taila Hartley, Jodi Warman Chardon, Sarah Sawyer, Jeremy Schwartzentruber, Raoul Hennekam, Jacek Majewski, Dennis E. Bulman, FORGE Canada Consortium, Mohnish Suri and Kym M. Boycott

    Version of Record online : 2 MAY 2016, DOI: 10.1002/ajmg.a.37684

  11. Familial digital arthropathy-brachydactyly

    American Journal of Medical Genetics

    Volume 108, Issue 3, 15 March 2002, Pages: 235–240, David J. Amor, Coral Tudball, R.J. McKinlay Gardner, Shireen R. Lamandé, John F. Bateman and Ravi Savarirayan

    Version of Record online : 4 FEB 2002, DOI: 10.1002/ajmg.10269

  12. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 16, 15 August 2008, Pages: 2116–2121, Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos and Bruno Dallapiccola

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32435

  13. Brachydactyly type A-7 (Smorgasbord): a new entity

    Clinical Genetics

    Volume 35, Issue 4, April 1989, Pages: 261–267, Samuel A. Meiselman, Michal Berkenstadt, Tami Ben-Ami and Richard M. Goodman

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1989.tb02940.x

  14. Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?

    Clinical Genetics

    Volume 68, Issue 2, August 2005, Pages: 155–160, M Šinkovec, D Petrovič, M Volk and B Peterlin

    Version of Record online : 17 JUN 2005, DOI: 10.1111/j.1399-0004.2005.00476.x

  15. Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families

    American Journal of Medical Genetics

    Volume 73, Issue 3, 19 December 1997, Pages: 279–285, David Chitayat, Art Grix, J. Williamson Balfe, Jacques S. Abramowicz, Judy Garza, Chin-To Fong, Meredith M. Silver, Devereux N. Saller Jr., George H. Bresnick, Andres Giedion, Ralph S. Lachman and David L. Rimoin

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971219)73:3<279::AID-AJMG10>3.0.CO;2-G

  16. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 1, 15 February 2005, Pages: 61–67, Andreas Zankl, Luitgard Neumann, Jaako Ignatius, Peter Nikkels, Connie Schrander-Stumpel, Geert Mortier, Heymut Omran, Michael Wright, Katja Hilbert, Luisa Bonafé, Juergen Spranger, Bernhard Zabel and Andrea Superti-Furga

    Version of Record online : 10 JAN 2005, DOI: 10.1002/ajmg.a.30531

  17. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

    American Journal of Medical Genetics

    Volume 94, Issue 2, 11 September 2000, Pages: 102–112, Carlos A. Bacino, David W. Stockton, Roberta A. Sierra, Heidi A. Heilstedt, Raymond Lewandowski and Ignatia B. Van den Veyver

    Version of Record online : 7 SEP 2000, DOI: 10.1002/1096-8628(20000911)94:2<102::AID-AJMG2>3.0.CO;2-X

  18. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 66–70, Birgitta Gläser, Eva Rossier, Gotthold Barbi, Loredana Delle Chiaie, Christian Blank, Walther Vogel and Hildegard Kehrer-Sawatzki

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10878

  19. Brachydactyly and short stature in a kindred with early-onset parkinsonism

    American Journal of Medical Genetics Part A

    Volume 130A, Issue 1, 15 September 2004, Pages: 102–104, Marieke C.J. Dekker, R.J.H. Galjaard, P.J.L.M. Snijders, P. Heutink, B.A. Oostra and C.M. van Duijn

    Version of Record online : 4 AUG 2004, DOI: 10.1002/ajmg.a.30021

  20. Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 4, 1 August 2003, Pages: 498–502, Gen Nishimura, Rika Kizu, Yoshimaro Kijima, Kiyoshi Sakai, Yoshiharu Kawaguchi, Tomoatsu Kimura, Isao Matsushita, Shuya Shirahama, Toshiyuki Ikeda, Shiro Ikegawa and Tomonobu Hasegawa

    Version of Record online : 26 MAR 2003, DOI: 10.1002/ajmg.a.20095