The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

Autor: Ruth M, Liberfarb, Howard P, Levy, Peter S, Rose, Douglas J, Wilkin, Joie, Davis, Joan Z, Balog, Andrew J, Griffith, Yvonne M, Szymko-Bennett, Jennifer J, Johnston, Clair A, Francomano, Ekaterina, Tsilou, Benhamin I, Rubin

Publikováno v: Genetics in Medicine. 5:21-27

Purpose: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative COL2A1 mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823310c5a4c34381aa8c99506fc4df1b
https://doi.org/10.1097/00125817-200301000-00004

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan

Autor: Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Erich Roessler, Joan Z. Balog, Donald W. Hadley, Maximilian Muenke, Wadih M. Zein, Brian P. Brooks

Publikováno v: American journal of medical genetics. Part A. (5)

To the Editor: We appreciate the points raised by Dr. Khan in response to our recent article, as well as the opportunity to clarify our findings in an effort to provide a thorough phenotypic characterization of patients within the holoprosencephaly (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dee0587d524a5392603e21bf53680a7
https://pubmed.ncbi.nlm.nih.gov/22645505

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD

Autor: Hakon Hakonarson, Tobias J. Renner, Andres Arbelaez, Ana C. Londoño, Mauricio Arcos-Burgos, Jobst Meyer, Juan Davis Palacio, David Pineda, Susanne Walitza, Francisco X. Castellanos, Christiane Seitz, Erich Roessler, Klaus-Peter Lesch, Haukur Palmason, Mahim Jain, James M. Swanson, Jasmin Romanos, Christian Jacob, Marcel Romanos, Joan Z. Balog, Francisco Lopera, Christine M. Freitag, Maria T. Acosta, Joan E. Bailey-Wilson, Louis Guillermo Palacio, U. Hemminger, Josephine Elia, Jorge I. Vélez, Maximilian Muenke, Andreas Warnke

Publikováno v: Molecular psychiatry, vol 17, iss 7
Molecular Psychiatry

In previous studies of a genetic isolate, we identified significant linkage of attention deficit hyperactivity disorder (ADHD) to 4q, 5q, 8q, 11q and 17p. The existence of unique large size families linked to multiple regions, and the fact that these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8601f4266adbca7602d85904c837c37f
https://www.zora.uzh.ch/id/eprint/49845/

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Autor: Raoul C.M. Hennekam, Ann Haskins Olney, Elizabeth Roeder, Sherri J. Bale, Sylvie Odent, Nan Zhou, Mauricio R. Delgado, Robert Long, Véronique David, Elizabeth McPherson, Michelle Clemens, Nancy J. Clegg, Ute Hehr, Aimee D C Paulussen, Erich Roessler, Eric Levey, Ewa Pronicka, Derek A. T. Cummings, Lars-Erik Wehner, Felicitas Lacbawan, Donald W. Hadley, Sandra Mercier, Daniel E. Pineda-Alvarez, Jin S. Hahn, Sue Kenwrick, Sophia M. Bous, Christèle Dubourg, Carol Booth, Elaine E. Stashinko, Amelia A. Keaton, Hubert J T Smeets, Joan Z. Balog, Anna Tylki-Szymańska, Jorge I. Vélez, Maximilian Muenke, Chayim Can Schell-Apacik, Ronald L. Thomas, Emily Hardisty, Kenneth N. Rosenbaum, Benjamin D. Solomon, Dagmar Wieczorek

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Journal of Medical Genetics, 47(8), 513-524. BMJ Publishing Group
Journal of medical genetics, 47(8), 513-524. BMJ Publishing Group

Holoprosencephaly (HPE) is the most common malformation of the human forebrain, and may be due to cytogenetic anomalies, teratogens, occur in the context of a syndrome, or be due to mutations in single genes associated with non-syndromic HPE. Mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb303e051f62a85257ada1175479c33
https://europepmc.org/articles/PMC3208626/

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Autor: M. J. van den Boogaard, Elaine E. Stashinko, John C. Carey, Ute Hehr, Felicitas Lacbawan, David Chitayat, Han G. Brunner, Raoul C.M. Hennekam, Jorge I. Vélez, Eric Levey, Diana W. Bianchi, Jill Clayton-Smith, Nan Zhou, Jin S. Hahn, Joan Z. Balog, William B. Dobyns, Mauricio R. Delgado, Wendy E. Smith, Sabina Domené, Scott D. McLean, Benjamin D. Solomon, Petur Benedikt Juliusson, Pål R. Njølstad, Donald W. Hadley, Peter Wieacker, Aimee D C Paulussen, Katie Clarkson, Alan Fryer, Erich Roessler, Nancy J. Clegg, Donna M. McDonald-McGinn, Ctrm Schrander-Stumpel, Robert Long, A. van Haeringen, Maximilian Muenke, Kenia B. El-Jaick, M. I. VanAllen, Andreas R. Janecke, A. Postra, J. Herbergs, J. Müsebeck, A. Lichty, Said A. Omar, Lorraine Potocki, Elaine H. Zackai, Dian Donnai

Publikováno v: Journal of Medical Genetics, 46(6), 389-398. BMJ Publishing Group
Journal of medical genetics, 46(6), 389-398. BMJ Publishing Group

Background: Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain. There are several important HPE mutational target genes, including the transcription factor SIX3, which encodes an early regulator of Shh, Wnt, Bmp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f027a6f551dc6d4376789bfc9b63c658
https://dare.uva.nl/personal/pure/en/publications/clinical-spectrum-of-six3associated-mutations-in-holoprosencephaly-correlation-between-genotype-phenotype-and-function(969ea6aa-5e7c-493d-b2ed-79de3c1b65be).html