The cardiofaciocutaneous syndrome
Roberts, A, Allanson, J, Jadico, S K, Kavamura, M I, Noonan, J, Opitz, J M, Young, T, Neri, G
Published in Journal of Medical Genetics (01.11.2006)
Published in Journal of Medical Genetics (01.11.2006)
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Book Review
A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus
Dunn, P., Prigatano, G. P., Szelinger, S., Roth, J., Siniard, A. L., Claasen, A. M., Richholt, R. F., De Both, M., Corneveaux, J. J., Moskowitz, A. M., Balak, C., Piras, I. S., Russell, M., Courtright, A. L., Belnap, N., Rangasamy, S., Ramsey, K., Opitz, J. M., Craig, D. W., Narayanan, V., Huentelman, M. J., Schrauwen, I.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Journal Article
Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome
Neri, G., Marini, R., Cappa, M., Borrelli, P., Opitz, J.M.
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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Journal Article
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome
KAVAMURA, M. I, POMPONI, M. G, ZOLLINO, M, LECCE, R, MURDOLO, M, BRUNONI, D, ALCHORNE, M. M. A, OPITZ, J. M, NERI, G
Published in European journal of human genetics : EJHG (01.01.2003)
Published in European journal of human genetics : EJHG (01.01.2003)
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Journal Article
Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy-Terminal Domain
Gaudenz, Karin, Roessler, Erich, Quaderi, Nandita, Franco, Brunella, Feldman, George, Gasser, David L., Wittwer, Bärbel, Montini, Eugenio, Opitz, John M., Ballabio, Andrea, Muenke, Maximilian
Published in American journal of human genetics (01.09.1998)
Published in American journal of human genetics (01.09.1998)
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Journal Article
Transitory hypogammaglobulinemia of infancy in FG syndrome
Finocchi, A., Palma, P., Rossi, P., Opitz, J.M., Neri, G.
Published in American journal of medical genetics. Part A (01.11.2005)
Published in American journal of medical genetics. Part A (01.11.2005)
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Journal Article
Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
Kavamura, M.I., Zollino, M., Lecce, R., Murdolo, M., Brunoni, D., Alchorne, M.M.A., Opitz, J.M., Neri, G.
Published in American journal of medical genetics. Part A (01.06.2003)
Published in American journal of medical genetics. Part A (01.06.2003)
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Journal Article
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
Robin, Nathaniel H, Feldman, George J, Aronson, Adam L, Mitchell, Heather F, Weksberg, Rosanna, Leonard, Claire O, Burton, Barbara K, Josephson, Kevin D, Laxová, Renata, Aleck, Kyrieckos A, Allanson, Judith E, Guion-Almeida, Maria Leine, Martin, Rick A, Leichtman, Lawrence G, Price, R. Arlen, Opitz, John M, Muenke, Maximilian
Published in Nature genetics (01.12.1995)
Published in Nature genetics (01.12.1995)
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Journal Article
"DOUBLE-MUSCLE" TRAIT IN CATTLE: A POSSIBLE MODEL FOR WIEDEMANN-BECKWITH SYNDROME
Best, L. G., Gilbert-Barness, E., Gerrard, D. E., Gendron-Fitzpatrick, A., Opitz, J. M.
Published in Fetal and pediatric pathology (01.01.2006)
Published in Fetal and pediatric pathology (01.01.2006)
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Journal Article
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
Quaderi, N A, Schweiger, S, Gaudenz, K, Franco, B, Rugarli, E I, Berger, W, Feldman, G J, Volta, M, Andolfi, G, Gilgenkrantz, S, Marion, R W, Hennekam, R C, Opitz, J M, Muenke, M, Ropers, H H, Ballabio, A
Published in Nature genetics (01.11.1997)
Published in Nature genetics (01.11.1997)
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Journal Article
Wolf-Hirschhorn syndrome (WHS): a history in pictures
Battaglia, A, Carey, J C, Viskochil, D H, Cederholm, P, Opitz, J M
Published in Clinical dysmorphology (01.01.2000)
Published in Clinical dysmorphology (01.01.2000)
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Journal Article
Errors of morphogenesis: concepts and terms. Recommendations of an international working group
Spranger, J, Benirschke, K, Hall, J G, Lenz, W, Lowry, R B, Opitz, J M, Pinsky, L, Schwarzacher, H G, Smith, D W
Published in The Journal of pediatrics (01.01.1982)
Published in The Journal of pediatrics (01.01.1982)
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Journal Article
338 THE FG SYNDROME: FROM 1974-2004
Smith, J. F., Wayment, R. O., Opitz, J. M.
Published in Journal of investigative medicine (01.01.2005)
Published in Journal of investigative medicine (01.01.2005)
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Journal Article
Microcephaly: general considerations and aids to nosology
Opitz, J M, Holt, M C
Published in Journal of craniofacial genetics and developmental biology (1990)
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Published in Journal of craniofacial genetics and developmental biology (1990)
Journal Article
Conjoined twins: Morphogenesis of the heart and a review
Gilbert-Barness, Enid, Debich-Spicer, Diane, Opitz, John M.
Published in American journal of medical genetics. Part A (01.08.2003)
Published in American journal of medical genetics. Part A (01.08.2003)
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