Search Results

There are 12239 results for: content related to: Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome

  1. A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2849–2856, Phi Yen Vu, Jérôme Toutain, David Cappellen, Marie-Ange Delrue, Hussein Daoud, Azza Abd El Moneim, Pascal Barat, Orianne Montaubin, Françoise Bonnet, Zong Qi Dai, Christophe Philippe, Cong Toai Tran, Caroline Rooryck, Benoît Arveiler, Robert Saura, Sylvain Briault, Didier Lacombe and Laurence Taine

    Version of Record online : 3 OCT 2012, DOI: 10.1002/ajmg.a.35694

  2. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: Delineation of a newly recognized overgrowth syndrome

    American Journal of Medical Genetics

    Volume 46, Issue 5, 15 June 1993, Pages: 555–558, Danilo Moretti-Ferreira, Célia P. Koiffmann, Márcia Listik, Nuvarte Setian and Dr. Anita Wajntal

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320460519

  3. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting

    American Journal of Medical Genetics Part A

    Volume 170, Issue 7, July 2016, Pages: 1665–1726, Karen W. Gripp, Margaret P. Adam, Louanne Hudgins and John C. Carey

    Version of Record online : 27 APR 2016, DOI: 10.1002/ajmg.a.37600

  4. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  5. A Survey of ocular abnormalities in Miniature Horses

    Veterinary Ophthalmology

    Volume 14, Issue 4, July 2011, Pages: 239–243, Caryn E. Plummer and David T. Ramsey

    Version of Record online : 18 APR 2011, DOI: 10.1111/j.1463-5224.2010.00868.x

  6. Ophthalmic features of CHARGE syndrome with CHD7 mutations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 514–518, Sachiko Nishina, Rika Kosaki, Tatsuhiko Yagihashi, Noriyuki Azuma, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Kenji Kurosawa, Takahiro Yamane, Seiji Mizuno, Kinichi Tsuzuki and Kenjiro Kosaki

    Version of Record online : 2 FEB 2012, DOI: 10.1002/ajmg.a.34400

  7. Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES Syndrome): A newly recognized autosomal recessive syndrome

    American Journal of Medical Genetics

    Volume 103, Issue 4, 1 November 2001, Pages: 283–288, Piranit N. Kantaputra, Jurairat Kunachaichote and Prapatsorn Patikulsila

    Version of Record online : 19 OCT 2001, DOI: 10.1002/ajmg.1572

  8. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: e1–e4, C. Thauvin-Robinet, L. Duplomb-Jego, F. Limoge, D. Picot, A. Masurel, B. Terriat, C. Champilou, D. Minot, J. St-Onge, P. Kuentz, Y. Duffourd, J. Thevenon, J.-B. Rivière and L. Faivre

    Version of Record online : 20 JAN 2016, DOI: 10.1111/cge.12704

  9. An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation

    Clinical Genetics

    Volume 36, Issue 6, December 1989, Pages: 451–455, M. Buttiens, J. P. Fryns and H. van den Berghe

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1989.tb03375.x

  10. You have free access to this content
    Genetic disorders associated with macrocephaly

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2023–2037, Charles A. Williams, Aditi Dagli and Agatino Battaglia

    Version of Record online : 15 JUL 2008, DOI: 10.1002/ajmg.a.32434

  11. Mental deficiency, alterations in performance, and CNS abnormalities in Overgrowth syndromes

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

    Volume 117C, Issue 1, 15 February 2003, Pages: 49–56, M. Michael Cohen Jr.

    Version of Record online : 22 JAN 2003, DOI: 10.1002/ajmg.c.10013

  12. Naevi and Other Developmental Defects

    Rook's Textbook of Dermatology, Seventh Edition

    D. J. Atherton, C. Moss, Pages: 569–682, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch15

  13. Lens formation in the absence of optic cup in rat embryos irradiated with soft X-ray

    Veterinary Ophthalmology

    Volume 6, Issue 1, March 2003, Pages: 61–66, Satoru Inagaki and Tadao Kotani

    Version of Record online : 12 MAR 2003, DOI: 10.1046/j.1463-5224.2003.00270.x

  14. Colobomatous macrophthalmia with microcornea syndrome: Report of a new pedigree

    American Journal of Medical Genetics Part A

    Volume 121A, Issue 1, 15 August 2003, Pages: 25–30, Ebru Toker, Nursel Elcioglu, Eda Ozcan, Ozlem Yenice and Mehdi Ogut

    Version of Record online : 1 APR 2003, DOI: 10.1002/ajmg.a.20083

  15. Congenital ocular abnormalities of Rocky Mountain Horses

    Veterinary Ophthalmology

    Volume 2, Issue 1, March 1999, Pages: 47–59, Ramsey, Ewart, Render, Cook and Latimer

    Version of Record online : 5 JAN 2002, DOI: 10.1046/j.1463-5224.1999.00050.x

  16. Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature

    American Journal of Medical Genetics Part A

    Volume 170, Issue 4, April 2016, Pages: 1017–1022, Claire G. Salter, Diana Baralle, Morag N. Collinson and James E. Self

    Version of Record online : 15 JAN 2016, DOI: 10.1002/ajmg.a.37436

  17. Caruncle abnormalities in the oculo-auriculo-vertebral spectrum

    American Journal of Medical Genetics

    Volume 113, Issue 4, 15 December 2002, Pages: 320–325, Navdeep Nijhawan, Yair Morad, Jacqueline Seigel-Bartelt and Alex V. Levin

    Version of Record online : 15 AUG 2002, DOI: 10.1002/ajmg.b.10715

  18. You have free access to this content
    Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients

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

    Volume 172, Issue 1, March 2016, Pages: 59–63, Jordan D. Gisseman and Honey H. Herce

    Version of Record online : 18 MAR 2016, DOI: 10.1002/ajmg.c.31480

  19. A retrospective survey of ocular abnormalities in pugs: 130 cases

    Journal of Small Animal Practice

    Volume 56, Issue 2, February 2015, Pages: 96–102, M. Krecny, A. Tichy, J. Rushton and B. Nell

    Version of Record online : 5 NOV 2014, DOI: 10.1111/jsap.12291

  20. Ruvalcaba-Myhre-Smith Syndrome

    Pediatric Dermatology

    Volume 5, Issue 1, February 1988, Pages: 28–32, Joseph C. Gretzula, Osmar Hevia, Lawrence S. Shachner, John H. DiLiberti, R. H. A. Ruvalcaba, James R. Schimshock, Richard G. Weleber, Fahed Halal, Mark H. Lipson, Bruce Blumberg and Paul J. Weber

    Version of Record online : 20 MAR 2008, DOI: 10.1111/j.1525-1470.1988.tb00880.x