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There are 69802 results for: content related to: Crisponi syndrome: A new case with additional features and new mutation in CRLF1

  1. You have free access to this content
    Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome

    Congenital Anomalies

    Volume 52, Issue 4, December 2012, Pages: 216–218, Nilay Hakan, Fatma Tuba Eminoglu, Mustafa Aydin, Aysegul Zenciroglu, Nazmiye Nilgun Karadag, Arzu Dursun, Nurullah Okumus and Serdar Ceylaner

    Version of Record online : 26 NOV 2012, DOI: 10.1111/j.1741-4520.2012.00360.x

  2. Isolated ‘sign of the horns’: A simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome

    Journal of Obstetrics and Gynaecology Research

    Volume 38, Issue 3, March 2012, Pages: 582–585, Angelica Dessì, Vassilios Fanos, Giangiorgio Crisponi, Alessandro Frau and Giovanni Ottonello

    Version of Record online : 16 FEB 2012, DOI: 10.1111/j.1447-0756.2011.01741.x

  3. Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2831–2834, Niranjan Thomas, Sumita Danda, Manish Kumar, Atanu Kumar Jana, Giangiorgio Crisponi, Alessandra Meloni and Laura Crisponi

    Version of Record online : 3 OCT 2008, DOI: 10.1002/ajmg.a.32487

  4. Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 764–769, Masanori Yamazaki, Tomoki Kosho, Shigeo Kawachi, Maiko Mikoshiba, Jun Takahashi, Rena Sano, Kenji Oka, Kunihiro Yoshida, Tomoharu Watanabe, Hiroyuki Kato, Mitsuhisa Komatsu, Rie Kawamura, Keiko Wakui, Per M. Knappskog, Helge Boman and Yoshimitsu Fukushima

    Version of Record online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33315

  5. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 424–433, Roberta Piras, Francesca Chiappe, Ilaria La Torraca, Insa Buers, Gianluca Usala, Andrea Angius, Mustafa Ali Akin, Lina Basel-Vanagaite, Francesco Benedicenti, Elisabetta Chiodin, Osama El Assy, Michal Feingold-Zadok, Javier Guibert, Benjamin Kamien, Çiğdem Seher Kasapkara, Esra Kılıç, Koray Boduroğlu, Selim Kurtoglu, Adnan Y Manzur, Eray Esra Onal, Enrica Paderi, Carmen Herrero Roche, Leyla Tümer, Sezin Unal, Gülen Eda Utine, Giovanni Zanda, Andreas Zankl, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi and Frank Rutsch

    Version of Record online : 6 MAR 2014, DOI: 10.1002/humu.22522

  6. Crisponi/CISS1 syndrome: A case series

    American Journal of Medical Genetics Part A

    Volume 170, Issue 5, May 2016, Pages: 1236–1241, Amal M. Alhashem, Muhammad Ali Majeed–Saidan, Amer N. Ammari, Maha S. Alrakaf, Maha Nojoom, Sateesh Maddirevula, Eissa Faqeih, Fowzan S. Alkuraya, Ester Garne and Ahmad M. Kurdi

    Version of Record online : 24 JAN 2016, DOI: 10.1002/ajmg.a.37569

  7. Neonatal paroxysmal trismus and camptodactyly: The Crisponi syndrome

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 1, 15 February 2005, Pages: 90–92, Eline A. Nannenberg, Rob Bijlmer, Bjorn M. Van Geel and Raoul C.M. Hennekam

    Version of Record online : 6 JAN 2005, DOI: 10.1002/ajmg.a.30536

  8. Stüve–Wiedemann syndrome in a neonate

    Pediatrics International

    Volume 57, Issue 2, April 2015, Pages: 302–304, Kosmas Sarafidis, Kaliopi Piretzi, Eleni Agakidou, Jürgen Kohlhase and Dimitrios Zafeiriou

    Version of Record online : 13 APR 2015, DOI: 10.1111/ped.12431

  9. Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 266–272, C Jung, N Dagoneau, G Baujat, M Le Merrer, A David, M Di Rocco, B Hamel, A Mégarbané, A Superti-Furga, S Unger, A Munnich and V Cormier-Daire

    Version of Record online : 23 FEB 2010, DOI: 10.1111/j.1399-0004.2009.01314.x

  10. Crisponi syndrome: Report of a further patient

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 2, 1 December 2003, Pages: 183–185, P. Accorsi, L. Giordano and F. Faravelli

    Version of Record online : 12 JUN 2003, DOI: 10.1002/ajmg.a.20292

  11. Stüve–Wiedemann syndrome and related bent bone dysplasias

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 12–21, N A Akawi, B R Ali and L Al-Gazali

    Version of Record online : 21 FEB 2012, DOI: 10.1111/j.1399-0004.2012.01852.x

  12. You have free access to this content
    Trismus in the paediatric population

    Developmental Medicine & Child Neurology

    Volume 57, Issue 4, April 2015, Pages: 339–343, Peter M Shires and Gabriel Chow

    Version of Record online : 19 NOV 2014, DOI: 10.1111/dmcn.12636

  13. 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

  14. You have free access to this content
    Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action

    Developmental Medicine & Child Neurology

    Volume 52, Issue 5, May 2010, Pages: 494–497, Jana Herholz, Laura Crisponi, Birendra N Mallick and Frank Rutsch

    Version of Record online : 24 FEB 2010, DOI: 10.1111/j.1469-8749.2010.03630.x

  15. Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 11, 1 June 2006, Pages: 1245–1249, J.E. García-Ortiz, G. Castañeda-Cisneros, M.G. López-Cardona, J. Sánchez-Corona, B. Patiño-García, C.L. García-González, Z. Nazará, N. Dávalos-Rodríguez, L.X. Rodríguez and D. García-Cruz

    Version of Record online : 10 MAY 2006, DOI: 10.1002/ajmg.a.31238

  16. The distal arthrogryposes: Delineation of new entities – review and nosologic discussion

    American Journal of Medical Genetics

    Volume 11, Issue 2, February 1982, Pages: 185–239, Dr. J. G. Hall, S. D. Reed and G. Greene

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320110208

  17. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications

    Pediatric Anesthesia

    Volume 19, Issue 3, March 2009, Pages: 212–217, DOMINIQUE BONTHUIS, EVA MORAVA, LEO H.D.J. BOOIJ and JACQUES J. DRIESSEN

    Version of Record online : 21 JAN 2009, DOI: 10.1111/j.1460-9592.2008.02891.x

  18. Camptodactyly and Knuckle Pads Coexisting in an Adolescent Boy: Connection or Coincidence?

    Pediatric Dermatology

    Volume 32, Issue 3, May/June 2015, Pages: e126–e127, Michael D. Corbo and Miriam Weinstein

    Version of Record online : 17 MAR 2015, DOI: 10.1111/pde.12558

  19. A 72-year-old Danish puzzle resolved—comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 4, 1 November 2005, Pages: 328–339, Klaus W. Kjaer, Lars Hansen, Hans Eiberg, Algirdas Utkus, Lene T. Skovgaard, Pernille Leicht, John M. Opitz and Niels Tommerup

    Version of Record online : 12 OCT 2005, DOI: 10.1002/ajmg.a.30971

  20. A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly

    Clinical Genetics

    Volume 26, Issue 4, October 1984, Pages: 342–355, M. M. Rozin, M. Hertz and R. M. Goodman

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1984.tb01070.x