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There are 4177 results for: content related to: Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion

  1. Cri du chat syndrome: Changing phenotype in older patients

    American Journal of Medical Genetics

    Volume 90, Issue 3, 31 January 2000, Pages: 203–215, G.J.C.M. Van Buggenhout, E. Pijkels, M. Holvoet, C. Schaap, B.C.J. Hamel and J.P. Fryns

    Article first published online : 9 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000131)90:3<203::AID-AJMG5>3.0.CO;2-A

  2. 5p deletions: Current knowledge and future directions

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 3, September 2015, Pages: 224–238, Joanne M. Nguyen, Krista J. Qualmann, Rebecca Okashah, AmySue Reilly, Mikhail F. Alexeyev and Dennis J. Campbell

    Article first published online : 3 AUG 2015, DOI: 10.1002/ajmg.c.31444

  3. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature

    Prenatal Diagnosis

    Volume 24, Issue 1, January 2004, Pages: 50–57, Chih-Ping Chen, Chen-Chi Lee, Tung-Yao Chang, Dai-Dyi Town and Wayseen Wang

    Article first published online : 21 JAN 2004, DOI: 10.1002/pd.794

  4. You have free access to this content
    Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management

    Developmental Medicine & Child Neurology

    Volume 44, Issue 7, July 2002, Pages: 494–497, K Cornish and D Bramble

    Article first published online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2002.tb00312.x

  5. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 2, 15 April 2005, Pages: 198–201, Chang Y. Tsao, Gail D. Wenger and Dennis W. Bartholomew

    Article first published online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30592

  6. Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1761–1764, Jennifer M. Sardina, Allyson R. Walters, Kathryn E. Singh, Renius X. Owen and Virginia E. Kimonis

    Article first published online : 26 MAR 2014, DOI: 10.1002/ajmg.a.36494

  7. Facial Appearance in Cri du Chat Syndrome

    Developmental Medicine & Child Neurology

    Volume 10, Issue 1, February 1968, Pages: 69–76, R. R. Gordon and Patricia Cooke

    Article first published online : 12 NOV 2008, DOI: 10.1111/j.1469-8749.1968.tb02840.x

  8. No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome

    American Journal of Medical Genetics

    Volume 86, Issue 1, 3 September 1999, Pages: 66–70, R. Catrinel Marinescu, Elizabeth I. Johnson, Elisabeth M. Dykens, Robert M. Hodapp and Joan Overhauser

    Article first published online : 28 JUL 1999, DOI: 10.1002/(SICI)1096-8628(19990903)86:1<66::AID-AJMG13>3.0.CO;2-N

  9. del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 9, 1 May 2006, Pages: 1016–1020, Ibrahim Akalin, Kanay Yararbas, Nursen Akgul, Elif Babaoglu, Guvem Gumus Akay, Sara Dyer, Nuket Yurur Kutlay, Hatice Ilgin Ruhi, Gulay Kog and Ajlan Tukun

    Article first published online : 17 APR 2006, DOI: 10.1002/ajmg.a.31220

  10. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome

    American Journal of Medical Genetics

    Volume 86, Issue 3, 17 September 1999, Pages: 264–268, C. Sreekantaiah, D. Kronn, R.C. Marinescu, B. Goldin and J. Overhauser

    Article first published online : 10 SEP 1999, DOI: 10.1002/(SICI)1096-8628(19990917)86:3<264::AID-AJMG13>3.0.CO;2-Y

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    Early play behaviour in children with 5p- (Cri-du-Chat) syndrome

    Journal of Intellectual Disability Research

    Volume 47, Issue 2, February 2003, Pages: 113–120, K. Sarimski

    Article first published online : 22 JAN 2003, DOI: 10.1046/j.1365-2788.2003.00448.x

  12. FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome

    Clinical Genetics

    Volume 56, Issue 4, October 1999, Pages: 282–288, R Catrinel Marinescu, Elizabeth I Johnson, Deborah Grady, Xiao-Ning Chen and Joan Overhauser

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560405.x

  13. Dermatoglyphics in Cri du Chat syndrome

    Clinical Genetics

    Volume 11, Issue 2, February 1977, Pages: 214–218, Hiroshi Shiono, Jun-Ichi Kadowaki and Hisashi Kazama

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1977.tb01302.x

  14. Variability in a family with an insertion involving 5p

    American Journal of Medical Genetics

    Volume 86, Issue 3, 17 September 1999, Pages: 258–263, R. Catrinel Marinescu, Peter Mamunes, Antonie D. Kline, Jennifer Schmidt, Katherine Rojas and Joan Overhauser

    Article first published online : 10 SEP 1999, DOI: 10.1002/(SICI)1096-8628(19990917)86:3<258::AID-AJMG12>3.0.CO;2-Q

  15. Multigenerational autosomal dominant inheritance of 5p chromosomal deletions

    American Journal of Medical Genetics Part A

    Volume 170, Issue 3, March 2016, Pages: 583–593, Bin Zhang, Marcia Willing, Dorothy K. Grange, Marwan Shinawi, Linda Manwaring, Marisa Vineyard, Shashikant Kulkarni and Catherine E. Cottrell

    Article first published online : 24 NOV 2015, DOI: 10.1002/ajmg.a.37445

  16. A systematic review of the oral and craniofacial manifestations of cri du chat syndrome

    Clinical Anatomy

    José-Ramón Corcuera-Flores, Lizett Casttellanos-Cosano, Daniel Torres-Lagares, María ángeles Serrera- Figallo, ÁNGELA Rodríguez-Caballero and Guillermo Machuca-Portillo

    Article first published online : 21 DEC 2015, DOI: 10.1002/ca.22654

  17. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2513–2521, Ascensión Vera-Carbonell, Juan Antonio Bafalliu, Encarna Guillén-Navarro, Ariadna Escalona, María J. Ballesta-Martínez, Carme Fuster, Asunción Fernández and Isabel López-Expósito

    Article first published online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33055

  18. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly

    Prenatal Diagnosis

    Volume 22, Issue 1, January 2002, Pages: 64–66, E.-G. G. Stefanou, G. Hanna, A. Foakes, M. Crocker and M. Fitchett

    Article first published online : 24 JAN 2002, DOI: 10.1002/pd.243

  19. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH

    Clinical Genetics

    Volume 67, Issue 4, April 2005, Pages: 341–351, C Harvard, a,g P Malenfant, d,g M Koochek, b,g S Creighton, b,g ECR Mickelson, c,g JJA Holden, d,e,f,g MES Lewis and b,g E Rajcan-Separovic a,g

    Article first published online : 25 FEB 2005, DOI: 10.1111/j.1399-0004.2005.00406.x

  20. Phenotypic and phoniatric findings in mosaic cri du chat syndrome

    American Journal of Medical Genetics

    Volume 39, Issue 4, 15 June 1991, Pages: 391–395, Corrado Romano, Rosa Maria Ragusa, Franco Scillato, Donatella Greco, Giuseppe Amato and Cosimo Barletta

    Article first published online : 6 JUN 2005, DOI: 10.1002/ajmg.1320390405