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There are 82294 results for: content related to: “Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome” Am J Med Genet. 161:518–526, 2013

  1. You have free access to this content
    A genome-wide approach to children's aggressive behavior: The EAGLE consortium

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 171, Issue 5, July 2016, Pages: 562–572, Irene Pappa, Beate St Pourcain, Kelly Benke, Alana Cavadino, Christian Hakulinen, Michel G. Nivard, Ilja M. Nolte, Carla M. T. Tiesler, Marian J. Bakermans-Kranenburg, Gareth E. Davies, David M. Evans, Marie-Claude Geoffroy, Harald Grallert, Maria M. Groen-Blokhuis, James J. Hudziak, John P. Kemp, Liisa Keltikangas-Järvinen, George McMahon, Viara R. Mileva-Seitz, Ehsan Motazedi, Christine Power, Olli T. Raitakari, Susan M. Ring, Fernando Rivadeneira, Alina Rodriguez, Paul A. Scheet, Ilkka Seppälä, Harold Snieder, Marie Standl, Elisabeth Thiering, Nicholas J. Timpson, René Veenstra, Fleur P. Velders, Andrew J. O. Whitehouse, George Davey Smith, Joachim Heinrich, Elina Hypponen, Terho Lehtimäki, Christel M. Middeldorp, Albertine J. Oldehinkel, Craig E. Pennell, Dorret I. Boomsma and Henning Tiemeier

    Version of Record online : 18 JUN 2015, DOI: 10.1002/ajmg.b.32333

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    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 296–312, Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-Hamid, Ghada M. Abdel-Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon-Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul-Hirji, Eileen M. Baildam, Nadia Bahi-Buisson, Kathryn M. Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward M. Blair, Miriam Bloom, Alberto B. Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro-Gago, Anna Cavallini, Cristina Cereda, Kate E. Chandler, David A. Chitayat, Abigail E. Collins, Concepcion Sierra Corcoles, Nuno J.V. Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D′Arrigo, Christian G.E.L. De Goede, Corinne De Laet, Liesbeth M.H. De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C. Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R. Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J. Lim, Jean-Pierre S.-M. Lin, Tarja Linnankivi, Mark T. Mackay, Daphna R. Marom, Charles Marques Lourenço, Shane A. McKee, Isabella Moroni, Jenny E.V. Morton, Marie-Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez-Enamorado, Patrick J. Oades, Ivana Olivieri, John R. Ostergaard, Belén Pérez-Dueñas, Julie S. Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A. Segers, Gyanranjan P. Sinha, Doriette Soler, Ronen Spiegel, Tommy I. Stödberg, Rachel Straussberg, Kathryn J. Swoboda, Mohnish Suri, Uta Tacke, Tiong Y. Tan, Johann te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S. van der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B. Wallace, Evangeline Wassmer, Hannah J. Webb, William P. Whitehouse, Robyn N. Whitney, Maha S. Zaki, Sameer M. Zuberi, John H. Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi and Gillian I. Rice

    Version of Record online : 16 JAN 2015, DOI: 10.1002/ajmg.a.36887

  3. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2490–2495, Brett M. Martin, Margarita H. Ivanova, Anna Sarukhanov, Ashley Kim, Patricia Power, Denise Pugash, Oana-Eugenia Popescu, Ralph S. Lachman, Deborah Krakow and Millan S. Patel

    Version of Record online : 3 JUL 2014, DOI: 10.1002/ajmg.a.36656

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    Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 189–194, Yuko Watanabe, Kosuke Shido, Tetsuya Niihori, Hidetaka Niizuma, Yu Katata, Chie Iizuka, Daiju Oba, Kunihiko Moriya, Yuka Saito-Nanjo, Masaei Onuma, Takeshi Rikiishi, Yoji Sasahara, Mika Watanabe, Setsuya Aiba, Ryuta Saito, Yukihiko Sonoda, Teiji Tominaga, Yoko Aoki and Shigeo Kure

    Version of Record online : 11 SEP 2015, DOI: 10.1002/ajmg.a.37376

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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

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  6. Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 518–526, Yoko Narumi, Byung-Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon-Sok Chung, Ok-Hwa Kim, Yoshimitsu Fukushima, Woong-Yang Park and Gen Nishimura

    Version of Record online : 7 FEB 2013, DOI: 10.1002/ajmg.a.35772

  7. Notch2 negatively regulates myofibroblastic differentiation of myoblasts

    Journal of Cellular Physiology

    Volume 210, Issue 2, February 2007, Pages: 358–369, Yusuke Ono, Hiroomi Sensui, Saeko Okutsu and Ryoichi Nagatomi

    Version of Record online : 16 OCT 2006, DOI: 10.1002/jcp.20838

  8. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2173–2176, Karit Reinson, Eve Õiglane-Shlik, Inga Talvik, Ulvi Vaher, Anne Õunapuu, Margus Ennok, Rita Teek, Sander Pajusalu, Ülle Murumets, Tiiu Tomberg, Sanna Puusepp, Andres Piirsoo, Tiia Reimand and Katrin Õunap

    Version of Record online : 2 JUN 2016, DOI: 10.1002/ajmg.a.37678

  9. Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors

    American Journal of Medical Genetics Part A

    Volume 170, Issue 2, February 2016, Pages: 471–475, Kosuke Izumi, Daisuke Hayashi, Christopher M. Grochowski, Noriko Kubota, Eriko Nishi, Michiko Arakawa, Takehiko Hiroma, Tomoko Hatata, Yoshifumi Ogiso, Tomohiko Nakamura, Alexandra M. Falsey, Eiko Hidaka and Nancy B. Spinner

    Version of Record online : 13 OCT 2015, DOI: 10.1002/ajmg.a.37429

  10. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 891–893, Christopher M. Grochowski, Ramakrishnan Rajagopalan, Alexandra M. Falsey, Kathleen M. Loomes, David A. Piccoli, Ian D. Krantz, Marcella Devoto and Nancy B. Spinner

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36946

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    Notch1 and Notch2 receptors influence progressive hair graying in a dose-dependent manner

    Developmental Dynamics

    Volume 236, Issue 1, January 2007, Pages: 282–289, Karine Schouwey, Véronique Delmas, Lionel Larue, Ursula Zimber-Strobl, Lothar J. Strobl, Freddy Radtke and Friedrich Beermann

    Version of Record online : 1 NOV 2006, DOI: 10.1002/dvdy.21000

  12. Persistence of müllerian duct structures in a genetic male with distal monosomy 10q

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 791–796, Mustafa Tosur, Cara A. Geary, Reuben Matalon, Ravi S. Radhakrishnan, Leonard E. Swischuk, William F. Tarry, Jianli Dong and Phillip D. K. Lee

    Version of Record online : 29 MAR 2015, DOI: 10.1002/ajmg.a.37014

  13. Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 750–753, Ramakrishnan Rajagopalan, Christopher M. Grochowski, Melissa A. Gilbert, Alexandra M. Falsey, Karlene Coleman, Rene Romero, Kathleen M. Loomes, David A. Piccoli, Marcella Devoto and Nancy B. Spinner

    Version of Record online : 24 DEC 2015, DOI: 10.1002/ajmg.a.37512

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    Notch2 is required for the proliferation of cardiac neural crest-derived smooth muscle cells

    Developmental Dynamics

    Volume 237, Issue 4, April 2008, Pages: 1144–1152, Prajakta Varadkar, Matthew Kraman, Daryl Despres, Ge Ma, Julie Lozier and Brent McCright

    Version of Record online : 10 MAR 2008, DOI: 10.1002/dvdy.21502

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    A prospective study of the effects of breastfeeding and FADS2 polymorphisms on cognition and hyperactivity/attention problems

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 5, July 2013, Pages: 457–465, Maria M. Groen-Blokhuis, S. Franić, Catharina E.M. van Beijsterveldt, Eco de Geus, Meike Bartels, Gareth E. Davies, Erik A. Ehli, Xiangjun Xiao, Paul A. Scheet, Robert Althoff, James J. Hudziak, Christel M. Middeldorp and Dorret I. Boomsma

    Version of Record online : 4 JUN 2013, DOI: 10.1002/ajmg.b.32175

  16. Notch2-induced COX-2 expression enhancing gastric cancer progression

    Molecular Carcinogenesis

    Volume 51, Issue 12, December 2012, Pages: 939–951, Yun-Chien Tseng, Yu-Hui Tsai, Min-Jen Tseng, Kai-Wen Hsu, Min-Chieh Yang, Kuo-Hung Huang, Anna Fen-Yau Li, Chin-Wen Chi, Rong-Hong Hsieh, Hung-Hai Ku and Tien-Shun Yeh

    Version of Record online : 4 OCT 2011, DOI: 10.1002/mc.20865

  17. Microarray and FISH-based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 597–609, Kenji Shimizu, Keiko Wakui, Tomoki Kosho, Nobuhiko Okamoto, Seiji Mizuno, Kazuya Itomi, Shigeto Hattori, Kimio Nishio, Osamu Samura, Yoshiyuki Kobayashi, Yuko Kako, Takashi Arai, Tsutomu Oh-ishi, Hiroshi Kawame, Yoko Narumi, Hirofumi Ohashi and Yoshimitsu Fukushima

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36308

  18. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3035–3041, Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis, Ivo de Blaauw, Rolph Pfundt, Iris A.L.M. van Rooij, Enrika Bartels, Alina Hilger, Ekkehart Jenetzky, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Dominik Schmidt, Stefanie Märzheuser, Stuart Hosie, Sandra Weih, Stefan Holland-Cunz, Markus Palta, Johannes Leonhardt, Mattias Schäfer, Christina Kujath, Anke Rißmann, Markus M. Nöthen, Nadine Zwink, Michael Ludwig and Heiko Reutter

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36153

  19. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1491–1494, Johanna Syvänen, Ilkka Helenius, Matti Hero, Outi Mäkitie and Jaakko Ignatius

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35872

  20. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 407–411, Eriko Nishi, Seiji Mizuno, Yuka Nanjo, Tetsuya Niihori, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki and Tomoki Kosho

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36842