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There are 55876 results for: content related to: Pancreatic insufficiency in Toriello–Carey syndrome: Report of a second patient

  1. Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report

    Special Care in Dentistry

    Volume 31, Issue 2, March/April 2011, Pages: 68–72, Márcia Bueno de Carvalho Maretti, Aida Sabbagh Haddad, Maria Cristina Duarte Ferreira, Renata de Oliveira Guaré and Luís Garcia Alonso

    Version of Record online : 3 MAR 2011, DOI: 10.1111/j.1754-4505.2011.00179.x

  2. Toriello–Carey syndrome: Delineation and review

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 1, November 15, 2003, Pages: 84–90, Helga V. Toriello, John C. Carey, Marie-Claude Addor, William Allen, Leah Burke, Nicole Chun, William Dobyns, Ellen Elias, Renata Gallagher, Roel Hordijk, Gene Hoyme, Mira Irons, Tamison Jewett, Martine LeMerrer, Mark Lubinsky, Rick Martin, Donna McDonald-McGinn, Luitgard Neumann, William Newman, Richard Pauli, Laurie Seaver, Anna Tsai, David Wargowsky, Marc Williams and Elaine Zackai

    Version of Record online : 19 SEP 2003, DOI: 10.1002/ajmg.a.20493

  3. Toriello–Carey syndrome associated with respiratory failure and non-mechanical ileus

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 4, 1 August 2003, Pages: 537–541, Tatsuki R. Kataoka, Akihiko Ito, Tasuku Nakabori, Yu-ichiro Koma, Hiroshi Nakai, Shinkichi Kamata and Yukihiko Kitamura

    Version of Record online : 26 MAR 2003, DOI: 10.1002/ajmg.a.20094

  4. Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

    American Journal of Medical Genetics Part A

    Volume 155, Issue 6, June 2011, Pages: 1390–1392, Edith Said, Alfred Cuschieri, Joris Vermeesch and Jean Pierre Fryns

    Version of Record online : 12 MAY 2011, DOI: 10.1002/ajmg.a.33961

  5. Toriello–Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 219–221, T. Martin-Denavit, M. Till and H. Plauchu

    Version of Record online : 11 MAY 2004, DOI: 10.1002/ajmg.a.30043

  6. Further delineation of the Toriello-Carey syndrome: A report of two siblings

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 2, 15 January 2003, Pages: 188–191, Ingeborg Barisic, Branimir Peter and Lili Mikecin

    Version of Record online : 5 SEP 2002, DOI: 10.1002/ajmg.a.10808

  7. Two sisters with Toriello-Carey syndrome

    American Journal of Medical Genetics

    Volume 87, Issue 3, 26 November 1999, Pages: 262–264, Yasutsugu Chinen, Takaya Tohma, Yoshinori Izumikawa, Hirohisa Taketomi, Tetsu Iha, Takao Ohta and Kenji Naritomi

    Version of Record online : 16 NOV 1999, DOI: 10.1002/(SICI)1096-8628(19991126)87:3<262::AID-AJMG13>3.0.CO;2-3

  8. Toriello-Carey syndrome: Evidence for X-linked inheritance

    American Journal of Medical Genetics

    Volume 65, Issue 4, 11 November 1996, Pages: 291–294, Paula Czarnecki, Didier Lacombe and Lester Weiss

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19961111)65:4<291::AID-AJMG9>3.0.CO;2-S

  9. Toriello-Carey syndrome: Case report with additional findings

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 273–276, S. Aftimos and J. McGaughran

    Version of Record online : 11 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<273::AID-AJMG1081>3.0.CO;2-4

  10. Kapur–Toriello syndrome: Further delineation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2791–2793, Emiy Yokoyama, Angélica Martínez and Ariadna González-del Angel

    Version of Record online : 1 OCT 2008, DOI: 10.1002/ajmg.a.32369

  11. Toriello-Carey syndrome phenotype and chromosome anomalies

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Page: 116, Helga V. Toriello and Eli Hatchwell

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.32057

  12. Prenatal ultrasound diagnosis of Toriello–Carey syndrome

    Prenatal Diagnosis

    Volume 22, Issue 13, December 2002, Pages: 1185–1187, Dario Paladini, Maria Giovanna Russo, Antonio Tartaglione, Annamaria Loffredo and Pasquale Martinelli

    Version of Record online : 14 NOV 2002, DOI: 10.1002/pd.488

  13. A case of Toriello–Carey syndrome with severe congenital tracheal stenosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2291–2293, Noritaka Yokoo, Chieko Marumo, Yoshinobu Nishida, Jun Iio, Shinji Maeda, Michiko Nonaka, Toshiro Maihara, Satoru Chujoh, Tetsuo Katayama, Hisanori Sakazaki, Naomichi Matsumoto and Nobuhiko Okamoto

    Version of Record online : 19 JUL 2013, DOI: 10.1002/ajmg.a.35861

  14. Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

    Clinical Genetics

    Volume 75, Issue 3, March 2009, Pages: 259–264, DH Tegay, KK Chan, L Leung, C Wang, S Burkett, G Stone, R Stanyon, HV Toriello and E Hatchwell

    Version of Record online : 18 JAN 2009, DOI: 10.1111/j.1399-0004.2008.01145.x

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    A novel multiple congenital anomaly–mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 19, 1 October 2007, Pages: 2221–2226, David A. Stevenson and John C. Carey

    Version of Record online : 31 AUG 2007, DOI: 10.1002/ajmg.a.31945

  16. Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 110–115, Alberto Sensi, Paolo Prontera, Barbara Buldrini, Silvia Palma, Vincenzo Aiello, Rita Gruppioni, Elisa Calzolari, Stefano Volinia and Alessandro Martini

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.32059

  17. Siblings with phenotypic overlap with Toriello–Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3068–3073, Robin McGoey, Aditi Varma and Yves Lacassie

    Version of Record online : 24 NOV 2010, DOI: 10.1002/ajmg.a.33721

  18. New case of Toriello-Carey syndrome

    American Journal of Medical Genetics

    Volume 42, Issue 3, 1 February 1992, Pages: 374–376, Dr. Didier Lacombe, Gérard Creusot and Jacques Battin

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420325

  19. Dental and dentofacial problems in a female child with Toriello-Carey ­syndrome: changes in 3 years

    Special Care in Dentistry

    Resmiye Ebru Tirali, Banu İlhan, Çağla Şar and Sevi Burçak Çehreli

    Version of Record online : 9 MAY 2016, DOI: 10.1111/scd.12176

  20. Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 85, Issue 8, August 2009, Pages: 677–694, Judith G. Hall

    Version of Record online : 30 JUL 2009, DOI: 10.1002/bdra.20611