Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Z. Docherty"'
Autor:
T. Brueckmann, W. Brenner, M. Steinemann, W. Vogel, S. Schlaubitz, C. Zühlke, M. Lombard, F. Boán, K. Benirschke, S. Naumann, S.W. Bremer, C. Steinlein, S. Steinemann, F. Richard, P.D. Thomsen, M. Yerle, K.D. Zang, Z. Docherty, C. Amid, K. Mrasek, I. Schubert, M. Mende, I. Nanda, T. Paiss, C. Genêt, L.J. Peelman, I. Chudoba, M. Hughes, R.-D. Wegner, U. Claussen, L. Sánchez, B. Seipel, F. Grützner, F.J. García-Cozar, D. Prawitt, B.U. Zabel, J.L. Wright, A. Van Zeveren, K. Stout, V. Kalscheuer, M. Stumm, R.V. Rambau, N. Reissmann, D.S. Gallagher, B. Zabel, A. Ishikawa, C. Messaoudi, A.T. Kumamoto, E.C. Akeson, A. Mujica, A. Dalski, P. Kaiser, T. Liehr, J.G. Scammell, S. Bremer, C. Pfeifer, S. Munsche, M.M. Valdivia, M. Van Poucke, M. Schmid, C.M. Tuck-Muller, H. Starke, F. Domínguez, Y. Matsuda, S. Störkel, C.G. Mathew, F.F.B. Elder, S. Narayanswami, H. Scherthan, J. Decker, E. Schwinger, A. Niveleau, V. Trifonov, H. Mayrhofer, J. Gómez-Márquez, J.P. Lambert, S.-E. Bikar, E. Zend-Ajusch, L.J. Bechtel, T. Haaf, Y.A. Wang, A. Viñas, C. Iglesias, C. Mackie Ogilvie, A. Bahr, T. Nagase, A. Dufke, H.H.Q. Heng, A. Winterpacht, W. Lu, T.J. Robinson, C. Maier, K. Matsubara, A. Heller, A. Kuroiwa, M. Rocchi, B. Dutrillaux, C.J. Ye, N. Nomura, N. Rubtsov, E.R. Schmidt, T. Namikawa, M.T. Davisson, C. Tuggle, K. Gardiner, H. Enders, G. Liu, M. Buceta, H. Hanson, H. Hauser, N. Sampson, H. Neitzel, P.D. Waters, T. Hankeln, H. Tönnies, C. Pendón, J. Bolívar, M.L. Houck, D. Reutzel, M. Leipoldt, A. Cichutek, P. Moens, J.A.M. Graves, P.J. Kirby, B. Maurer, A. Astola, S.A. Krawetz, F. Piumi
Publikováno v:
Cytogenetic and Genome Research. 93:321-323
Publikováno v:
Genetica. 83:61-65
Prenatal diagnosis of chromosome abnormalities can be performed on three different samples; chorion villi (CVS), amniotic fluid (AFS) and fetal blood (FBS). We are presenting data from our own experience on the chromosome analysis of 957 CVS, 1000 AF
Publikováno v:
American journal of medical genetics. 96(1)
A group of 103 subjects with a strict diagnosis of autism were tested for deletion of band q11.2 on the long arm of chromosome 22. No deletions were found, indicating that when a patient has been diagnosed with autism using strict and consistent crit
Publikováno v:
American journal of medical genetics. 87(4)
Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo
Publikováno v:
Journal of medical genetics. 34(11)
Multiple supernumerary ring chromosomes are a rare cytogenetic finding which is poorly understood. With the introduction of FISH techniques, their chromosomal origin can now be defined clearly. The techniques described previously are complicated and
Autor:
D. T. Pilz, Mary D. King, Z. Docherty, Maurice Super, S. McManus, J. L. Huret, S.J. Fennell, E. Boyd, A. J. Barnicoat, E. Shafei-Benaissa, John Tolmie, J. L. Bonneau, E. L. Maltby
Publikováno v:
Clinical genetics. 49(1)
We report on the clinical and cytogenetic assessment of five cases of Down syndrome phenotype with either a partial duplication of chromosome 21 or a normal karyotype, and we quote a case of del (21q) syndrome. Down syndromes with a partial duplicati
Publikováno v:
Clinical dysmorphology. 3(1)
A fetus with multiple abnormalities phenotypically similar to hydrolethalus syndrome, but also with broad thumbs, was found to have a de novo interstitial deletion of the terminal segment of the long arm of chromosome 7 and a small rearrangement with
Publikováno v:
Journal of medical genetics. 30(6)
We report a case of a female infant with a de novo deletion of the short arm of chromosome 9, sex reversal, and an apparently intact SRY gene. Sex reversal has been reported in a number of subjects with a normal Y chromosome and a deletion of the ter
Autor:
N. Sampson, W. Lu, H. Neitzel, P.D. Waters, T. Brueckmann, W. Brenner, C. Mackie Ogilvie, A. Heller, H. Tönnies, B. Dutrillaux, M. Steinemann, C. Pendón, J. Bolívar, R.-D. Wegner, M. Lombard, C.J. Ye, A. Ishikawa, E. Zend-Ajusch, T. Nagase, Y.A. Wang, F. Richard, A. Kuroiwa, N. Rubtsov, E.R. Schmidt, C. Tuggle, C. Genêt, K. Gardiner, H. Enders, B. Zabel, A. Van Zeveren, M. Rocchi, H. Scherthan, A. Dalski, R.V. Rambau, J.P. Lambert, K. Stout, A. Dufke, B. Seipel, F.F.B. Elder, J.L. Wright, T. Namikawa, H. Hauser, E. Schwinger, M. Buceta, C. Pfeifer, S. Narayanswami, A.T. Kumamoto, H. Starke, V. Kalscheuer, J.G. Scammell, M. Stumm, K. Matsubara, V. Trifonov, C. Amid, K. Mrasek, G. Liu, A. Bahr, T. Haaf, A. Viñas, C. Iglesias, Z. Docherty, H. Mayrhofer, P. Kaiser, S.-E. Bikar, I. Chudoba, C.M. Tuck-Muller, J. Decker, L.J. Bechtel, H.H.Q. Heng, A. Winterpacht, M.M. Valdivia, C. Messaoudi, D. Reutzel, M. Van Poucke, C. Steinlein, S. Störkel, U. Claussen, T.J. Robinson, J.A.M. Graves, A. Niveleau, F. Grützner, A. Mujica, N. Nomura, W. Vogel, S. Naumann, M. Hughes, E.C. Akeson, S. Steinemann, I. Nanda, S. Bremer, S. Munsche, S.W. Bremer, P.D. Thomsen, F.J. García-Cozar, D. Prawitt, B.U. Zabel, B. Maurer, A. Astola, T. Liehr, F. Domínguez, M.T. Davisson, H. Hanson, T. Hankeln, L.J. Peelman, M.L. Houck, N. Reissmann, Y. Matsuda, J. Gómez-Márquez, M. Leipoldt, A. Cichutek, K.D. Zang, P. Moens, T. Paiss, D.S. Gallagher, M. Schmid, C.G. Mathew, S.A. Krawetz, F. Piumi, S. Schlaubitz, C. Zühlke, F. Boán, K. Benirschke, M. Yerle, I. Schubert, M. Mende, P.J. Kirby, L. Sánchez, C. Maier
Publikováno v:
Cytogenetic and Genome Research. 93:319-320
Autor:
Z Docherty
Publikováno v:
Heredity. 49:349-352