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There are 29823 results for: content related to: Fraser Syndrome: Epidemiological Study in a European Population

  1. 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

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    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

  3. 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

  4. Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  5. 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

  6. Preferential Associated Anomalies in 818 Cases of Microtia in South America

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1051–1057, Daniela V. Luquetti, Timothy C. Cox, Jorge Lopez-Camelo, Maria da Graça Dutra, Michael L. Cunningham and Eduardo E. Castilla

    Version of Record online : 29 MAR 2013, DOI: 10.1002/ajmg.a.35888

  7. 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

  8. 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

  9. 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

  10. Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia–Esophageal Atresia Syndrome Negative for SOX2 Mutation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1189–1193, J. Román Corona-Rivera, Juan Carlos Zenteno, Erika Pelcastre-Luna, Karla Miguel-Jiménez, Rafael L. Aguirre-Guillén, Jesús Cabral-Macías, Christian Peña-Padilla, Lucina Bobadilla-Morales and Alfredo Corona-Rivera

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35854

  11. 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

  12. 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

  13. 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

  14. 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

  15. Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1291–1299, Agnieszka Jurecka, Ekaterina Zakharova, Loreta Cimbalistiene, Nina Gusina, Anna Kulpanovich, Adam Golda, Violetta Opoka-Winiarska, Ewa Piotrowska, Elena Voskoboeva and Anna Tylki-Szymańska

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35905

  16. Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 993–1001, Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi-Moab, Alisha B. Wilkens, Surabhi Mulchandani, Kristin Zelley, Megan Kowalski, Tricia R. Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nancy B. Spinner and Matthew A. Deardorff

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35831

  17. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1833–1852, Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

    Version of Record online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

  18. Reduces Bone Mass as in Human Apert Syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 983–992, Xia Zhou, Dongquan Pu, Ri Liu, Xiangjie Li, Xiujie Wen, Li Zhang, Lin Chen, Manjing Deng and Luchuan Liu

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35824

  19. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909

  20. Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1002–1007, Seth M. Weinberg, Trish E. Parsons, Melissa R. Fogel, Courtney P. Walter, Amy L. Conrad and Peg Nopoulos

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35835