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There are 2939 results for: content related to: Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy?

  1. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  2. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 10, 15 May 2006, Pages: 1047–1058, L.C. Adès, K. Sullivan, A. Biggin, E.A. Haan, M. Brett, K.J. Holman, J. Dixon, S. Robertson, A.D. Holmes, J. Rogers and B. Bennetts

    Version of Record online : 4 APR 2006, DOI: 10.1002/ajmg.a.31202

  3. Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 3, 15 June 2005, Pages: 251–262, Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth, Herbert Enders, Ursula Jung, Rainer König, Beate Mitulla, Dietmar Müller, Petra Muschke, Lutz Pfeiffer, Bettina Prager, Mirja Somer and Sigrid Tinschert

    Version of Record online : 9 MAY 2005, DOI: 10.1002/ajmg.a.30431

  4. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

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

    Volume 169, Issue 1, March 2015, Pages: 6–22, Marina Colombi, Chiara Dordoni, Nicola Chiarelli and Marco Ritelli

    Version of Record online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31429

  5. You have free access to this content
    Tentative clinical diagnosis of Lujan-Fryns syndrome—A conglomeration of different genetic entities?

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 94–102, Karl Hackmann, Andreas Rump, Stefan A. Haas, Johannes R. Lemke, Jean-Pierre Fryns, Andreas Tzschach, Dagmar Wieczorek, Beate Albrecht, Alma Kuechler, Tim Ripperger, Albrecht Kobelt, Konrad Oexle, Sigrid Tinschert, Evelin Schrock, Vera M. Kalscheuer and Nataliya Di Donato

    Version of Record online : 11 SEP 2015, DOI: 10.1002/ajmg.a.37378

  6. Craniosynostosis and marfanoid habitus without mental retardation: Report of a third case

    American Journal of Medical Genetics

    Volume 77, Issue 2, 1 May 1998, Pages: 170–171, André Mégarbané and Nabil Hokayem

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980501)77:2<170::AID-AJMG13>3.0.CO;2-K

  7. Preserved neurobehavioral abilities in Lujan-Fryns syndrome

    American Journal of Medical Genetics

    Volume 107, Issue 3, 22 January 2002, Pages: 243–246, Jacobus Donders, Helga Toriello and Steven van Doornik

    Version of Record online : 29 NOV 2001, DOI: 10.1002/ajmg.10144

  8. Patient with craniosynostosis and marfanoid phenotype (Shprintzen-goldberg syndrome) and cloverleaf skull

    American Journal of Medical Genetics

    Volume 57, Issue 4, 17 July 1995, Pages: 573–578, Howard M. Saal, Dorothy I. Bulas, Jill Fonda Allen, L. Gilbert Vezina, Dawn Walton and Kenneth N. Rosenbaum

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.1320570411

  9. X-linked mental retardation with marfanoid habitus

    American Journal of Medical Genetics

    Volume 28, Issue 2, October 1987, Pages: 267–274, Jean-Pierre Fryns, Marc Buttiens, John M. Opitz and James F. Reynolds

    Version of Record online : 4 JUN 2005, DOI: 10.1002/ajmg.1320280202

  10. Marfanoid habitus with abnormal situs

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 3, 15 June 2004, Pages: 310–312, Kenjiro Kosaki, Lynne M. Bird, Jun Maeda, Masataka Higuchi, Marilyn C. Jones and Morio Matsumoto

    Version of Record online : 5 MAR 2004, DOI: 10.1002/ajmg.a.30022

  11. Shprintzen-Goldberg syndrome: A clinical analysis

    American Journal of Medical Genetics

    Volume 76, Issue 3, 19 March 1998, Pages: 202–212, Marie T. Greally, John C. Carey, Dianna M. Milewicz, Louanne Hudgins, Rosalie B. Goldberg, Robert J. Shprintzen, Anthony J. Cousineau, Wilbur L. Smith Jr, G. Frank Judisch and James W. Hanson

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S

  12. You have free access to this content
    Cardiovascular abnormalities in the marfanoid hypermobility syndrome

    Arthritis & Rheumatism

    Volume 19, Issue 4, July/August 1976, Pages: 763–768, Deborah J. Cotton and Kenneth D. Brandt

    Version of Record online : 18 APR 2006, DOI: 10.1002/1529-0131(197607/08)19:4<763::AID-ART1780190418>3.0.CO;2-3

  13. Germline mosacism in Shprintzen–Goldberg syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1574–1578, Alan L. Shanske, James T. Goodrich, Leena Ala-Kokko, Stuart Baker, Barbara Frederick and Brynn Levy

    Version of Record online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35388

  14. Molecular pathology of Shprintzen–Goldberg syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 104–108, Kenjiro Kosaki, Daisuke Takahashi, Toru Udaka, Rika Kosaki, Morio Matsumoto, Shigeharu Ibe, Takeshi Isobe, Yoko Tanaka and Takao Takahashi

    Version of Record online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31006

  15. Misuse of the descriptor “Marfanoid”

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Page: 1771, Alasdair Hunter

    Version of Record online : 16 JUN 2008, DOI: 10.1002/ajmg.a.32374

  16. X-linked mental retardation with marfanoid habitus: First report of four Italian patients

    American Journal of Medical Genetics

    Volume 38, Issue 2-3, 1 February - 1 March 1991, Pages: 228–232, F. Lalatta, E. Livini, A. Selicorni, V. Briscioli, A. Vita, F. Lugo, M. Zollino, F. Gurrieri and G. Neri

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320380211

  17. Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 24, 15 December 2006, Pages: 2807–2811, Ivan Lerma-Carrillo, Juan D. Molina, Teresa Cuevas-Duran, Carmen Julve-Correcher, Juan M. Espejo-Saavedra, Cristina Andrade-Rosa and Francisco Lopez-Muñoz

    Version of Record online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31503

  18. FAMILIAL MYOPATHY ASSOCIATED WITH MARFANOID FEATURES AND MULTICORES

    Australian and New Zealand Journal of Medicine

    Volume 14, Issue 4, August 1984, Pages: 495–499, D. A. JOYCE, F. L. MASTAGLIA, V. J. OJEDA and D. V. SPAGNOLO

    Version of Record online : 25 MAR 2008, DOI: 10.1111/j.1445-5994.1984.tb03626.x

  19. Reply to Hunter's letter on the “misuse of the descriptor “Marfanoid””

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Page: 1772, Célia M. Giacheti and Antonio Richieri-Costa

    Version of Record online : 16 JUN 2008, DOI: 10.1002/ajmg.a.32373

  20. 5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly

    Clinical Genetics

    Volume 37, Issue 2, February 1990, Pages: 153–157, Sjzhong Zhang, Yongcai Tang, Fupjng Dai and Erik Nœbuhr

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1990.tb03493.x