Search Results - "Francomano, C. A." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

by MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J
Published in American journal of human genetics (01.03.1997)

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Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

by Bellus, Gary A, Gaudenz, Karin, Zackai, Elaine H, Clarke, Lome A, Szabo, Jinny, Francomano, Clair A, Muenke, Maximilian
Published in Nature genetics (01.10.1996)

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Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization

Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization

by Henderson, Fraser C., Francomano, C. A., Koby, M., Tuchman, K., Adcock, J., Patel, S.
Published in Neurosurgical review (01.12.2019)

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Identification of a Mutation in the Gene Encoding the α Subunit of the Stimulatory G Protein of Adenylyl Cyclase in McCune-Albright Syndrome

Identification of a Mutation in the Gene Encoding the α Subunit of the Stimulatory G Protein of Adenylyl Cyclase in McCune-Albright Syndrome

by Schwindinger, William F., Francomano, Clair A., Levine, Michael A.
Published in Proceedings of the National Academy of Sciences - PNAS (01.06.1992)

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A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos

A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos

by IWATA, T, LIN CHEN, LI, C.-L, OVCHINNIKOV, D. A, BEHRINGER, R. R, FRANCOMANO, C. A, DENG, C.-X
Published in Human molecular genetics (01.07.2000)

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Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

by Wilkin, Douglas J., Szabo, Jinny K., Cameron, Rhoda, Henderson, Shirley, Bellus, Gary A., Mack, Michelle L., Kaitila, Ilkka, Loughlin, John, Munnich, Arnold, Sykes, Bryan, Bonaventure, Jacky, Francomano, Clair A.
Published in American journal of human genetics (01.09.1998)

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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

by Moloney, DM, Wall, SA, Ashworth, GJ, Oldridge, M, Glass, IA, Francomano, CA, Muenke, M, Wilkie, AOM
Published in The Lancet (British edition) (12.04.1997)

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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

by Bellus, Gary A, McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S, Kaitila, Ilkka, Horton, William A, Greenhaw, Giselle A, Hecht, Jacqueline T, Francomano, Clair A
Published in Nature genetics (01.07.1995)

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Sleep-disordered breathing in children with achondroplasia

Sleep-disordered breathing in children with achondroplasia

by Mogayzel, Peter J., Carroll, John L., Loughlin, Gerald M., Hurko, Orest, Francomano, Clair A., Marcus, Carole L.
Published in The Journal of pediatrics (01.04.1998)

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

by Hecht, Jacqueline T, Nelson, Laura D, Crowder, Eric, Wang, Yang, Elder, Frederick F.B, Harrison, Wilbur R, Francomano, Clair A, Prange, Christa K, Lennon, Gregory G, Deere, Michelle, Lawler, Jack
Published in Nature genetics (01.07.1995)

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A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene

by Tavormina, Patricia L., Bellus, Gary A., Webster, Melanie K., Bamshad, Michael J., Fraley, Alexander E., McIntosh, Iain, Szabo, Jinny, Jiang, Wen, Jabs, Ethylin W., Wilcox, William R., Wasmuth, John J., Donoghue, Daniel J., Thompson, Leslie M., Francomano, Clair A.
Published in American journal of human genetics (01.03.1999)

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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

by McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan
Published in American journal of human genetics (01.12.1998)

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The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

by Dietz, Harry C., Valle, David, Francomano, Clair A., Kendzior, Raymond J., Pyeritz, Reed E., Cutting, Garry R.
Published in Science (American Association for the Advancement of Science) (29.01.1993)

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Living with Marfan syndrome I. Perceptions of the condition

Living with Marfan syndrome I. Perceptions of the condition

by Peters, KF, Kong, F, Horne, R, Francomano, CA, Biesecker, BB
Published in Clinical genetics (01.10.2001)

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Living with Marfan syndrome II. Medication adherence and physical activity modification

Living with Marfan syndrome II. Medication adherence and physical activity modification

by Peters, KF, Horne, R, Kong, F, Francomano, CA, Biesecker, BB
Published in Clinical genetics (01.10.2001)

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Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome

by Montgomery, Robert A., Geraghty, Michael T., Bull, Evelyn, Gelb, Bruce D., Johnson, Maureen, McIntosh, Iain, Francomano, Clair A., Dietz, Harry C.
Published in American journal of human genetics (01.12.1998)

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Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects

Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects

by Hwang, S J, Beaty, T H, Panny, S R, Street, N A, Joseph, J M, Gordon, S, McIntosh, I, Francomano, C A
Published in American journal of epidemiology (01.04.1995)

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Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

by DIETZ, H. C, PYERITZ, R. E, PUFFENBERGER, E. G, KENDZIOR, R. J, CORSON, G. M, MASLEN, C. L, SAKAI, L. Y, FRANCOMANO, C. A, CUTTING, G. R
Published in The Journal of clinical investigation (01.05.1992)

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Genetic heterogeneity in families with hereditary multiple exostoses

Genetic heterogeneity in families with hereditary multiple exostoses

by COOK, A, RASKIND, W, WIJSMAN, E, HECHT, J. T, WELLS, D, WAGNER, M. J, BLANTON, S. H, PAULI, R. M, GREGG, R. G, FRANCOMANO, C. A, PUFFENBERGER, E, CONRAD, U, SCHMALE, G, SCHELLENBERG, G
Published in American journal of human genetics (01.07.1993)

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The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

by Polymeropoulos, Mihael H., Ide, Susan E., Wright, Michael, Goodship, Judith, Weissenbach, Jean, Pyeritz, Reed E., Da Silva, Elias O., Ortiz De Luna, Rosa Isela, Francomano, Clair A.
Published in Genomics (San Diego, Calif.) (01.07.1996)

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