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There are 8461 results for: content related to: Familial trisomy 6p in mother and daughter

  1. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3155–3160, Farouq K. Ababneh, Abdulrahman AlSwaid, Talaat Youssef, Manaf Al Azzawi, Andrew Crosby and Mohammed A. AlBalwi

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36160

  2. Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review

    American Journal of Medical Genetics Part A

    Jelle F. Homans, Isabel N. Tromp, Dino Colo, Tom P. C. Schlösser, Moyo C. Kruyt, Vincent F. X. Deeney, Terrence B. Crowley, Donna M. McDonald-McGinn and René M. Castelein

    Version of Record online : 21 NOV 2017, DOI: 10.1002/ajmg.a.38545

  3. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  4. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  5. Chimerism in monochorionic dizygotic twins: Case study and review

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1817–1824, Kristen Chen, Ramen H. Chmait, Douglas Vanderbilt, Samuel Wu and Linda Randolph

    Version of Record online : 22 MAY 2013, DOI: 10.1002/ajmg.a.35957

  6. Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1221–1237, Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi-Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35933

  7. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  8. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  9. Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review

    American Journal of Medical Genetics Part A

    Volume 173, Issue 11, November 2017, Pages: 2923–2946, Marion Luisin, Julien Chevreau, Céline Klein, Philippe Naepels, Bénédicte Demeer, Michèle Mathieu-Dramard, Guillaume Jedraszak, Catherine Gondry-Jouet, Jean Gondry, Anne Dieux-Coeslier and Gilles Morin

    Version of Record online : 26 SEP 2017, DOI: 10.1002/ajmg.a.38420

  10. Review of familial cerebral cavernous malformations and report of seven additional families

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 338–351, Ivo J. H. M. de Vos, Maaike Vreeburg, Ger H. Koek and Maurice A. M. van Steensel

    Version of Record online : 28 OCT 2016, DOI: 10.1002/ajmg.a.38028

  11. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2274–2280, M.M. Al-Qattan

    Version of Record online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  12. Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  13. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1950–1960, Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

    Version of Record online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

  14. Finding the genetic mechanisms of folate deficiency and neural tube defects—Leaving no stone unturned

    American Journal of Medical Genetics Part A

    Volume 173, Issue 11, November 2017, Pages: 3042–3057, Kit Sing Au, Tina O. Findley and Hope Northrup

    Version of Record online : 25 SEP 2017, DOI: 10.1002/ajmg.a.38478

  15. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  16. Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1167–1172, Ina E. Amarillo, Katrina M. Dipple and Fabiola Quintero-Rivera

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35847

  17. Genetic advances in craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1406–1429, Wanda Lattanzi, Marta Barba, Lorena Di Pietro and Simeon A. Boyadjiev

    Version of Record online : 4 FEB 2017, DOI: 10.1002/ajmg.a.38159

  18. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2141–2172, Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

  19. Pediatric glaucoma terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3205–3215, Anuradha Ganesh, Dang Tam Mai and Alex V. Levin

    Version of Record online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205

  20. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1447–1452, Else la Cour Sibbesen, Cathrine Jespersgaard, Daniela Alosi, Anne-Marie Bisgaard and Zeynep Tümer

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35901