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There are 27549 results for: content related to: Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation

  1. Non-trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1866–1874, Cherie N. Billingsley, Jared R. Allen, Douglas D. Baumann, Samantha L. Deitz, Joshua D. Blazek, Abby Newbauer, Andrew Darrah, Brad C. Long, Brandon Young, Mark Clement, R.W. Doerge and Randall J. Roper

    Article first published online : 10 JUL 2013, DOI: 10.1002/ajmg.a.36006

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    The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case–control study

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1654–1661, Dr. Linlea Armstrong, Kimberly Jett, Patricia Birch, David L. Kendler, Heather McKay, Erica Tsang, David A. Stevenson, David A. Hanley, Deetria Egeli, Melonie Burrows and J.M. Friedman

    Article first published online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36001

  3. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1875–1881, Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Mahmoud Y. Issa, Laila Effat, Samira Ismail, Mona S. Aglan and Maha S. Zaki

    Article first published online : 21 JUN 2013, DOI: 10.1002/ajmg.a.36009

  4. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2030–2035, Maria Juliana Ballesta-Martínez, Vanesa López-González, Lluis Armengol Dulcet, Benjamín Rodríguez-Santiago, Sixto Garcia-Miñaúr and Encarna Guillen-Navarro

    Article first published online : 21 JUN 2013, DOI: 10.1002/ajmg.a.36007

  5. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2420–2430, Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley and Katia Sol-Church

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36098

  6. Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2024–2026, Kitiwan Rojnueangnit and Nathaniel H. Robin

    Article first published online : 27 JUN 2013, DOI: 10.1002/ajmg.a.36004

  7. Learning and memory in children with Noonan syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2250–2257, Elizabeth I. Pierpont, Erica Tworog-Dube and Amy E. Roberts

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36075

  8. Altered lipid metabolism in gastroschisis: A novel hypothesis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1860–1865, Kenneth Lyons Jones, Lauren A. Weiss, Lee R. Hagey, Vanessa Gonzalez, Kurt Benirschke and Christina D. Chambers

    Article first published online : 21 JUN 2013, DOI: 10.1002/ajmg.a.36002

  9. Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1322–1327, Ariana Kariminejad, Bita Bozorgmehr, Houman Alizadeh, Siavash Ghaderi-Sohi, Güven Toksoy, Zehra Oya Uyguner and Hülya Kayserili

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36008

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    MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  11. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  12. PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2134–2147, Ellen A. Tsai, Micah A. Berman, Laura K. Conlin, Heidi L. Rehm, Lauren J. Francey, Matthew A. Deardorff, Jenelle Holst, Maninder Kaur, Emily Gallant, Dinah M. Clark, Joseph T. Glessner, Shane T. Jensen, Struan F.A. Grant, Peter J. Gruber, Hakon Hakonarson, Nancy B. Spinner and Ian D. Krantz

    Article first published online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36038

  13. Microdeletion 5q14.3 and anomalies of brain development

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2124–2133, Alrun Hotz, Yorck Hellenbroich, Jürgen Sperner, Michaela Linder-Lucht, Uta Tacke, Caren Walter, Almuth Caliebe, Inga Nagel, Dawn E. Saunders, Gerhard Wolff, Peter Martin and Deborah J. Morris-Rosendahl

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36020

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    Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1929–1939, Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36045

  15. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2204–2215, Ofer Sarig, Dorit Goldsher, Janna Nousbeck, Dana Fuchs-Telem, Ksenya Cohen-Katsenelson, Theodore C. Iancu, Irena Manov, Ann Saada, Eli Sprecher and Hanna Mandel

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36059

  16. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1915–1922, Lucia Püttmann, Henning Stehr, Masoud Garshasbi, Hao Hu, Kimia Kahrizi, Bettina Lipkowitz, Payman Jamali, Andreas Tzschach, Hossein Najmabadi, Hans-Hilger Ropers, Luciana Musante and Andreas W. Kuss

    Article first published online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36030

  17. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2174–2182, Rebecca L. Poole, Louise E. Docherty, Abeer Al Sayegh, Almuth Caliebe, Claire Turner, Emma Baple, Emma Wakeling, Lucy Harrison, Anna Lehmann, I. Karen Temple, Deborah J.G. Mackay and On behalf of the International Clinical Imprinting Consortium

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36049

  18. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2066–2073, Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  19. Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2407–2419, Ryan W.Y. Lee, Sandra K. Conley, Andrea Gropman, Forbes D. Porter and Eva H. Baker

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36096

  20. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2321–2326, Samantha J Turner, Michael S. Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E. Scheffer and Angela T. Morgan

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36055