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There are 28150 results for: content related to: Craniofacial morphology in patients with hypophosphatemic rickets: A cephalometric study focusing on differences between bone of cartilaginous and intramembranous origin

  1. Bone density phenotypes in mice aneuploid for the Down syndrome critical region

    American Journal of Medical Genetics Part A

    Volume 155, Issue 10, October 2011, Pages: 2436–2445, Lisa E. Olson and Subburaman Mohan

    Article first published online : 13 SEP 2011, DOI: 10.1002/ajmg.a.34203

  2. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1314–1321, Nicholas K. Rorick, Akira Kinoshita, Jason L. Weirather, Myriam Peyrard-Janvid, Renata L. L. Ferreira de Lima, Martine Dunnwald, Alan L. Shanske, Danilo Moretti-Ferreira, Hannele Koillinen, Juha Kere, Maria A. Mansilla, Jeffrey C. Murray, Steve L. Goudy and Brian C. Schutte

    Article first published online : 13 MAY 2011, DOI: 10.1002/ajmg.a.33980

  3. A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

    American Journal of Medical Genetics Part A

    Volume 155, Issue 2, February 2011, Pages: 403–408, D. Misceo, O.K. Rødningen, T. Barøy, H. Sorte, J.R. Mellembakken, P. Strømme, M. Fannemel and E. Frengen

    Article first published online : 14 JAN 2011, DOI: 10.1002/ajmg.a.33798

  4. Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 885–891, Bob Argiropoulos, Melissa Carter, Kathy Brierley, Heather Hare, Amélie Bouchard, Walla Al-Hertani, Shannon R. Ryan, Judith Reid, Mark Basik, Jean McGowan-Jordan and Gail E. Graham

    Article first published online : 17 MAR 2011, DOI: 10.1002/ajmg.a.33918

  5. Common structural features characterize interstitial intrachromosomal Xp and 18q triplications

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2681–2687, Roberto Giorda, Silvana Beri, M. Clara Bonaglia, Luigina Spaccini, Barbara Scelsa, Emmanouil Manolakos, Erika Della Mina, Roberto Ciccone and Orsetta Zuffardi

    Article first published online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34248

  6. Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2841–2854, Catherine Sarri, Sofia Douzgou, Yolanda Gyftodimou, Zeynep Tümer, Kirstine Ravn, Angela Pasparaki, Theologia Sarafidou, Harry Kontos, Haris Kokotas, Georgia Karadima, Maria Grigoriadou, Effie Pandelia, Virginia Theodorou, Nicholas K. Moschonas and Michael B. Petersen

    Article first published online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34259

  7. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1352–1359, Emily Spencer, Julia Davis, Fady Mikhail, Chuanhua Fu, Raymon Vijzelaar, Elaine H Zackai, Holly Feret, M Stephen Meyn, Andrea Shugar, Gary Bellus, Kristina Kocsis, Sirpa Kivirikko, Minna Pöyhönen and Ludwine Messiaen

    Article first published online : 5 MAY 2011, DOI: 10.1002/ajmg.a.33894

  8. A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1425–1431, Nicoletta Villa, Angela Bentivegna, Adam Ertel, Serena Redaelli, Carla Colombo, Renata Nacinovich, Fiorenza Broggi, Sara Lissoni, Silvia Bungaro, Sankar Addya, Paolo Fortina and Leda Dalprà

    Article first published online : 13 MAY 2011, DOI: 10.1002/ajmg.a.34010

  9. Anthropometric characteristics of X-linked hypophosphatemia

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 2, 15 April 2004, Pages: 141–149, Ewa Pronicka, Ewa Popowska, Elżbieta Rowińska, Elżbieta Arasimowicz, Małgorzata Syczewska, Dorota Jurkiewicz and Michał Lebiedowski

    Article first published online : 24 OCT 2003, DOI: 10.1002/ajmg.a.20572

  10. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2871–2878, Natalie M. Gallant, Erin Baldwin, Noriko Salamon, Katrina M. Dipple and Fabiola Quintero-Rivera

    Article first published online : 12 OCT 2011, DOI: 10.1002/ajmg.a.34286

  11. Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 102–110, Carla S. D'Angelo, Ilana Kohl, Monica Castro Varela, Cláudia I.E. de Castro, Chong A. Kim, Débora R. Bertola, Charles M. Lourenço and Célia P. Koiffmann

    Article first published online : 23 DEC 2009, DOI: 10.1002/ajmg.a.33160

  12. Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 441–446, Pia Pohjola, Nicole de Leeuw, Maila Penttinen and Helena Kääriäinen

    Article first published online : 25 JAN 2010, DOI: 10.1002/ajmg.a.33215

  13. Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 10, October 2010, Pages: 2512–2520, Stephen C. Collins, Steven M. Bray, Joshua A. Suhl, David J. Cutler, Bradford Coffee, Michael E. Zwick and Stephen T. Warren

    Article first published online : 26 AUG 2010, DOI: 10.1002/ajmg.a.33626

  14. Morphological characteristics of frontal sinus and nasal bone focusing on bone resorption and apposition in hypophosphatemic rickets

    Orthodontics & Craniofacial Research

    Volume 16, Issue 4, November 2013, Pages: 246–255, H. Gjørup, I. Kjaer, L. Sonnesen, S. S. Beck-Nielsen and D. Haubek

    Article first published online : 15 JUL 2013, DOI: 10.1111/ocr.12028

  15. Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 2, 1 December 2005, Pages: 67–77, Carrie L. Heike, Michael L. Cunningham, Robert D. Steiner, Deborah Wenkert, Robin L. Hornung, Joseph S. Gruss, Francis H. Gannon, William H. McAlister, Steven Mumm and Michael P. Whyte

    Article first published online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30915

  16. Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

    American Journal of Medical Genetics Part A

    Volume 155, Issue 1, January 2011, Pages: 113–119, Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, Mari Matsuo, Masahiro Ito and Katsumi Imai

    Article first published online : 10 DEC 2010, DOI: 10.1002/ajmg.a.33735

  17. Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2931–2937, Tuula Pekkarinen, Bettina Lorenz-Depiereux, Martina Lohman and Outi Mäkitie

    Article first published online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36721

  18. A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1453–1457, Siddharth Banka, Gregory J. Fitzgibbon, Lorraine Gaunt, Wendy J. Rankin and Jill Clayton-Smith

    Article first published online : 13 MAY 2011, DOI: 10.1002/ajmg.a.34034

  19. Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2669–2680, Ok-Hwa Kim, Hyunwoong Park, Moon-Woo Seong, Tae-Joon Cho, Gen Nishimura, Andrea Superti-Furga, Sheila Unger, Shiro Ikegawa, In Ho Choi, Hae-Ryong Song, Hyun Woo Kim, Won Joon Yoo, Jong Sup Shim, Chin Youb Chung, Chang-Wug Oh, Changhoon Jeong, Kwang Soon Song, Sang Gyo Seo, Sung Im Cho, Im Kyung Yeo, So Yeon Kim, Seungman Park and Sung Sup Park

    Article first published online : 30 SEP 2011, DOI: 10.1002/ajmg.a.34246

  20. Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 860–864, Nilrat Wannasilp, Benjamin D. Solomon, Nicole Warren-Mora, Nancy J. Clegg, Mauricio R. Delgado, Felicitas Lacbawan, Ping Hu, Thomas L. Winder, Erich Roessler and Maximilian Muenke

    Article first published online : 17 MAR 2011, DOI: 10.1002/ajmg.a.33903