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There are 8124 results for: content related to: A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

  1. 8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 561–565, Yanliang Zhang, Ya Li, Yuming Wang, Bin Shan and Yong Duan

    Article first published online : 12 FEB 2013, DOI: 10.1002/ajmg.a.35596

  2. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3148–3158, Mauro Longoni, Kasper Lage, Meaghan K. Russell, Maria Loscertales, Omar A. Abdul-Rahman, Gareth Baynam, Steven B. Bleyl, Paul D. Brady, Jeroen Breckpot, Chih P. Chen, Koenraad Devriendt, Gabriele Gillessen-Kaesbach, Arthur W. Grix, Alan F. Rope, Osamu Shimokawa, Bernarda Strauss, Dagmar Wieczorek, Elaine H. Zackai, Caroline M. Coletti, Faouzi I. Maalouf, Kristin M. Noonan, Ji H. Park, Adam A. Tracy, Charles Lee, Patricia K. Donahoe and Barbara R. Pober

    Article first published online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35665

  3. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

    American Journal of Medical Genetics Part A

    John C.K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine L. Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Fossøy Stadheim, Claire L.S. Turner, Jacqueline N. Gauthier, Tyler E. Reimschisel, Athar M. Qureshi, Tabib A. Dabir, Mervyn W. Humphreys, Michael Marble, Taosheng Huang, Sarah J. Beal, Joanne Massiah, Emma-Jane Taylor and Sarah L. Wynn

    Article first published online : 11 JUN 2015, DOI: 10.1002/ajmg.a.37120

  4. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 487–500, John C.K. Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil Anilkumar, Wendy E. Smith, Valerie Banks, Sara Ellingwood, Yara Kharbutli, Lakshmi Mehta, Keith A. Eddleman, Michael Marble, Regina Zambrano, John A. Crolla and Allen N. Lamb

    Article first published online : 23 JAN 2013, DOI: 10.1002/ajmg.a.35767

  5. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1661–1677, Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott and Sung-Hae Lee Kang

    Article first published online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32896

  6. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1565–1570, Gareth Baynam, Jack Goldblatt and Ian Walpole

    Article first published online : 9 MAY 2008, DOI: 10.1002/ajmg.a.32095

  7. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1158–1165, Marco T. Páez, Toshiyuki Yamamoto, Ken-ichi Hayashi, Toshiyuki Yasuda, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa, Yoshiyuki Furutani, Shuichi Asakawa, Nobuyoshi Shimizu and Rumiko Matsuoka

    Article first published online : 4 APR 2008, DOI: 10.1002/ajmg.a.32205

  8. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 49–51, Osamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, Nadiya Sosonkina, Naoki Harada, Takeshi Mizuguchi, Shinji Kondoh, Tatsuya Kishino, Tohru Ohta, Visser Remco, Takeshi Takashima, Akira Kinoshita, Koichiro Yoshiura, Norio Niikawa and Naomichi Matsumoto

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30778

  9. A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases

    Prenatal Diagnosis

    Volume 19, Issue 9, September 1999, Pages: 868–872, K. S. Reddy

    Article first published online : 22 SEP 1999, DOI: 10.1002/(SICI)1097-0223(199909)19:9<868::AID-PD641>3.0.CO;2-A

  10. Duplication of chromosome region 8p23.1 [RIGHTWARDS ARROW] p23.3: A benign variant?

    American Journal of Medical Genetics

    Volume 91, Issue 1, 6 March 2000, Pages: 18–21, J.J.M. Engelen, U. Moog, J.L.H. Evers, H. Dassen, J.C.M. Albrechts and A.J.H. Hamers

    Article first published online : 17 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.0.CO;2-3

  11. Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 208–213, F. Guimiot, C. Dupont, A. Fuentes-Duarte, A. Aboura, A. Bazin, S. Khung-Savatovsky, I. Tillous-Borde, A.-L. Delezoide and A. Azancot

    Article first published online : 14 DEC 2012, DOI: 10.1002/ajmg.a.35690

  12. Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH

    Clinical Genetics

    Volume 64, Issue 6, December 2003, Pages: 509–516, JM Milunsky and XL Huang

    Article first published online : 18 NOV 2003, DOI: 10.1046/j.1399-0004.2003.00189.x

  13. Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8p duplications

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 306–310, U. Moog, J.J.M. Engelen, J.C.M. Albrechts, L.G.M. Baars and C.E.M. de Die-Smulders

    Article first published online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<306::AID-AJMG8>3.0.CO;2-V

  14. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

    American Journal of Medical Genetics

    Volume 83, Issue 3, 19 March 1999, Pages: 201–206, Tugce Pehlivan, Barbara R. Pober, Martina Brueckner, Stacey Garrett, Rachel Slaugh, Richard Van Rheeden, David B. Wilson, Michael S. Watson and Anne V. Hing

    Article first published online : 4 MAR 1999, DOI: 10.1002/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V

  15. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 1018–1025, Fe Amalia García-Santiago, Víctor Martínez-Glez, Fernando Santos, Sixto García-Miñaur, Elena Mansilla, Antonio González Meneses, Jordi Rosell, Ángeles Pérez Granero, Elena Vallespín, Luis Fernández, Blanca Sierra, María Oliver-Bonet, María Palomares, María Luisa de Torres, María Ángeles Mori, Julián Nevado, Karen E. Heath, Alicia Delicado and Pablo Lapunzina

    Article first published online : 25 FEB 2015, DOI: 10.1002/ajmg.a.36879

  16. Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 2, 15 January 2006, Pages: 170–173, Joseph T.C. Shieh, Louanne Hudgins, Athena M. Cherry, Zhezhong Shen and H. Eugene Hoyme

    Article first published online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31036

  17. Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

    American Journal of Medical Genetics

    Volume 102, Issue 1, 22 July 2001, Pages: 86–94, Lucille Voullaire, Richard Saffery, Elizabeth Earle, Danielle V. Irvine, Howard Slater, Sue Dale, Desiree du Sart, Tracy Fleming and K.H. Andy Choo

    Article first published online : 5 JUL 2001, DOI: 10.1002/1096-8628(20010722)102:1<86::AID-AJMG1390>3.0.CO;2-T

  18. Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature

    Prenatal Diagnosis

    Volume 18, Issue 10, October 1998, Pages: 1055–1060, L. Faivre, N. Morichon-Delvallez, G. Viot, F. Narcy, S. Loison, L. Mandelbrot, M. C. Aubry, V. Raclin, P. Edery, A. Munnich and M. Vekemans

    Article first published online : 4 MAY 1999, DOI: 10.1002/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I

  19. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 3, 30 July 2005, Pages: 259–264, G. Zafra de la Rosa, C.A. Venegas-Vega, N. Monroy, G. Contreras-Bucio, U. Friedrich, M. Houman, A. Saad, P. Fernández, S. Kofman-Alfaro and A. Cervantes

    Article first published online : 14 JUN 2005, DOI: 10.1002/ajmg.a.30802

  20. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 4, April 2013, Pages: 822–828, Rachel D. Burnside, John G. Pappas, Stephanie Sacharow, Carolyn Applegate, Ada Hamosh, Inder K. Gadi, Vikram Jaswaney, Elisabeth Keitges, Karen K. Phillips, Venketaswara R. Potluri, Hiba Risheg, Janice L. Smith, Jim H. Tepperberg, Stuart Schwartz and Peter Papenhausen

    Article first published online : 12 MAR 2013, DOI: 10.1002/ajmg.a.35699