Angelman syndrome 2005: Updated consensus for diagnostic criteria
Williams, Charles A., Beaudet, Arthur L., Clayton-Smith, Jill, Knoll, Joan H., Kyllerman, Martin, Laan, Laura A., Magenis, R. Ellen, Moncla, Ann, Schinzel, Albert A., Summers, Jane A., Wagstaff, Joseph
Published in American journal of medical genetics. Part A (01.03.2006)
Published in American journal of medical genetics. Part A (01.03.2006)
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Conference Proceeding
Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome
DeScipio, Cheryl, Schneider, Lori, Young, Terri L., Wasserman, Nora, Yaeger, Dinah, Lu, Fengmin, Wheeler, Patricia G., Williams, Marc S., Bason, Lynn, Jukofsky, Lori, Menon, Ammini, Geschwindt, Ryan, Chudley, Albert E., Saraiva, Jorge, Schinzel, Albert A. G. L., Guichet, Agnes, Dobyns, William E., Toutain, Annick, Spinner, Nancy B., Krantz, Ian D.
Published in American journal of medical genetics. Part A (01.04.2005)
Published in American journal of medical genetics. Part A (01.04.2005)
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Journal Article
Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Journal Article
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
Robinson, Wendy P., Christian, Susan L., Kuchinka, Brian D., Peñaherrera, Maria S., Das, Soma, Schuffenhauer, Simone, Malcolm, Susan, Schinzel, Albert A., Hassold, Terry J., Ledbetter, David H.
Published in Clinical genetics (01.05.2000)
Published in Clinical genetics (01.05.2000)
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Journal Article
Phenotypic Characterization of DFNA24: Prelingual Progressive Sensorineural Hearing Impairment
Santos, Regie Lyn P., Häfner, Franziska M., Huygen, Patrick L.M., Linder, Thomas E., Schinzel, Albert A., Spillmann, Thomas, Leal, Suzanne M.
Published in Audiology & neurotology (01.01.2006)
Published in Audiology & neurotology (01.01.2006)
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Journal Article
Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age
Antonarakis, Stylianos E, Avramopoulos, Dimitrios, Blouin, Jean-Louis, Conover Talbot, C, Schinzel, Albert A
Published in Nature genetics (01.02.1993)
Published in Nature genetics (01.02.1993)
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Journal Article
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome
Riesewijk, A M, Blagitko, N, Schinzel, A A, Hu, L, Schulz, U, Hamel, B C, Ropers, H H, Kalscheuer, V M
Published in European journal of human genetics : EJHG (01.03.1998)
Published in European journal of human genetics : EJHG (01.03.1998)
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Parental origin of the supernumerary chromosome in trisomy 18
Ya-gang, X, Robinson, W P, Spiegel, R, Binkert, F, Ruefenacht, U, Schinzel, A A
Published in Clinical genetics (01.08.1993)
Published in Clinical genetics (01.08.1993)
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Journal Article
High Level of Unequal Meiotic Crossovers at the Origin of the 22q11.2 and 7q11.23 Deletions
Baumer, Alessandra, Dutly, Fabrizio, Balmer, Damina, Riegel, Mariluce, Tukel, Türgut, Krajewska-Walasek, Malgorzata, Schinzel, Albert A.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Journal Article
The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms
ANTONARAKIS, S. E, PETERSEN, M. B, COHEN, M. M, ROULSON, D, SCHWARTZ, S, MIKKELSEN, M, TRANEBJAERG, L, GREENBERG, F, HOAR, D. I, RUDD, N. L, WARREN, A. C, METAXOTOU, C, MCINNIS, M. G, BARTSOCAS, C, CHAKRAVARTI, A, ADELSBERGER, P. A, SCHINZEL, A. A, BINKERT, F, PANGALOS, C, RAOUL, O, SLAUGENHAUPT, S. A, HAFEZ, M
Published in American journal of human genetics (01.03.1992)
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Published in American journal of human genetics (01.03.1992)
Journal Article
Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)
BERNASCONI, F, KARAGÜZEL, A, CELEP, F, KESER, I, LÜLECI, G, DUTLY, F, SCHINZEL, A. A
Published in American journal of human genetics (01.11.1996)
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Published in American journal of human genetics (01.11.1996)
Journal Article
Nondisjunction of chromosome 15 : origin and recombination
ROBINSON, W. P, BERNASCONI, F, MUTIRANGURA, A, LEDBETTER, D. H, LANGLOIS, S, MALCOLM, S, MORRIS, M. A, SCHINZEL, A. A
Published in American journal of human genetics (01.09.1993)
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Published in American journal of human genetics (01.09.1993)
Journal Article
A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred
Häfner, Franziska M., Salam, Ambar A., Linder, Thomas E., Balmer, Damina, Baumer, Allessandra, Schinzel, Albert A., Spillmann, Thomas, Leal, Suzanne M.
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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Journal Article
Reduced recombination and paternal age effect in Klinefelter syndrome
Lorda-Sanchez, I, Binkert, F, Maechler, M, Robinson, W P, Schinzel, A A
Published in Human genetics (01.07.1992)
Published in Human genetics (01.07.1992)
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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis
PANGALOS, C, AVRAMOPOULOS, D, BLOUIN, J.-L, RAOUL, O, DEBLOIS, M.-C, PRIEUR, M, SCHINZEL, A. A, GIKA, M, ABAZIS, D, ANTONARAKIS, S. E
Published in American journal of human genetics (01.03.1994)
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Published in American journal of human genetics (01.03.1994)
Journal Article
Maternal uniparental disomy 22 has no impact on the phenotype
SCHINZEL, A. A, BASARAN, S, BERNASCONI, F, KARAMAN, B, YÜKSEL-APAK, M, ROBINSON, W. P
Published in American journal of human genetics (1994)
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Published in American journal of human genetics (1994)
Journal Article
A Novel Locus (DFNA23) for Prelingual Autosomal Dominant Nonsyndromic Hearing Loss Maps to 14q21-q22 in a Swiss German Kindred
Salam, Ambar A., Häfner, Franziska M., Linder, Thomas E., Spillmann, Thomas, Schinzel, Albert A., Leal, Suzanne M.
Published in American journal of human genetics (01.06.2000)
Published in American journal of human genetics (01.06.2000)
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