Contents Vol. 121, 2008

Autor: I. Babić, K. Kumke, P. Sirleto, M. Guerra, E. Gebhart, X. Liang, F. Pelliccia, A. Curatolo, L.-Y. Li, G. Queipo, C. Kopp, I. Palma, C. Soderberg, A.G. O’Reilly, K. Nieto, M. Kapović, M. Volleth, S.B. Olson, P.A. Wheeler, C.M. Ramsdell, E. Capanna, M.D. López-León, T. Sato, G. Emmert, N. Bosco, R.J. O’Neill, P. Grzmil, R. de la Herrán, N. Ohkohchi, P.C.M. O’Brien, E. Matoso, J.I. Navas, M. Switonski, R.E. Moses, Y.R. Peña, T.E. Mirkov, T.V. Karamysheva, L. Chavez, T. Matsumoto, A. Rocchi, A.G. Bugrov, H. Mizuno, I.M. Carreira, H. Tönnies, J. Hejna, J. Olvera, D.S. Perez, S. Kofman-Alfaro, C. Ruiz Rejón, M.C. Digilio, I.Y. Iourov, E. Aygören-Pürsün, R.N. Jones, R.B. Phillips, Y.B. Yurov, W. Rens, N.B. Rubtsov, A. Hemphill, R. Castiglia, A. Lombardo, J. Nowacka-Woszuk, H. Kiyosawa, C.J. Obergfell, T. Sasaki, J. Rubes, M.J. Julião, G.H. Thorgaard, I. López-Flores, M. Andersson, K. Bork, I. Szczerbal, A.C. Tomaiuolo, B. Brajenović-Milić, T. Rzymski, M. Kubo, M.J. O’Neill, K. Mrasek, K.-L. Sun, C.R. Müller, J. Saraiva, Y.M.N. Akkari, Z. Modrušan-Mozetić, J. Vraneković, J. Li-Ling, V.V. Monakhov, G. Krüger, I. Martinez-Saguer, H. Yasue, Z.-G. Li, A. Kocot, M.A. Alfaqih, J. Cabrero, J. Müller-Navia, O.C. Ukpo, E.J. Moore, M.J. Dewey, W. Kreuz, N. Nájera, A. Meinhardt, I.V. Soloviev, E. Rusicke, M. Ruiz Rejón, T. Liehr, A. Weise, A.P. Moraes, J.P.M. Camacho, W.-N. Fu, M. Herrera, I. Bauer, A. Mascarenhas, L.-L. Wang, V.V. Dzyubenko, M.A. Garrido-Ramos, A.E. Hanlon Newell, S. Wolf, D. Kademani, E. Gornung, H. Cernohorska, T. Göβwein, A. Gerlach, A.H. Rezaeian, J.B. Melo, J. Oldenburg, F. Robles, T. Miura, E.E. Mlynarski, A. Houben, R. Capolino, D. Aguirre, P. Burfeind, D.I. Smith, A. Angioni, M.C. Roberti, M. Chiba, I. Hachero, C. Surace, J. Sosnowski, S.G. Vorsanova

Publikováno v: Cytogenetic and Genome Research. 121:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5edf9a4e89545f217ea8b17373aa92f1
https://doi.org/10.1159/000153313

Additional Evidence of a Continuous Phenotypic Spectrum in the Short Rib-Polydactyly Syndromes

Autor: M. L. Cabrera, J. M. Valdés, M. E. Blanco, S. Kofman-Alfaro, J. C. Zenteno

Publikováno v: Fetal and Pediatric Pathology. 18:143-150

We report a stillborn female with most of the clinical, histologic, and radiographic characteristics of the short rib-polydactyly syndrome (SRPS) type IV (Beemer-Langer) but also presenting prominent metaphyseal and scapular irregularities and spikin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb35d47e7c291c285dbab59d2b66b9d
https://doi.org/10.3109/15513819809168782

Clinical and cytogenetic findings in 14 patients with madelung anomaly

Autor: M. E. Blanco, J C Zenteno, S. Kofman-Alfaro, A. Pérez-Cabrera

Publikováno v: Orthopedics. 28(3)

Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity cases are caused by hereditary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5bf2879fa67099f4773d6936bac324
https://pubmed.ncbi.nlm.nih.gov/15790091

PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype

Autor: A, Cervantes, R, Guevara-Yáñez, M, López, N, Monroy, M, Aguinaga, H, Valdez, C, Sierra, S, Canún, J, Guízar, C, Navarrete, G, Zafra, F, Salamanca, S, Kofman-Alfaro

Publikováno v: Clinical genetics. 60(5)

According to cytogenetic analysis, about 50% of Turner individuals are 45,X. The remaining cases have a structurally abnormal X chromosome or are mosaics with a second cell line containing a normal or abnormal sex chromosome. In these mosaics, approx

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4fb53ce57400d51f7f6417fedd298402
https://pubmed.ncbi.nlm.nih.gov/11903342

An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis

Autor: G, Maya-Nuñez, L, Torres, A, Ulloa-Aguirre, J C, Zenteno, S, Cuevas-Covarrubias, D, Saavedra-Ontiveros, S, Kofman-Alfaro, J P, Méndez

Publikováno v: Clinical endocrinology. 50(2)

Kallmann's syndrome (KS) is characterized by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This entity can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome. Genetic defects have been demonstrated on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6dfcc02745b8fe01d49053f9f7bddf6b
https://pubmed.ncbi.nlm.nih.gov/10396356