Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sophia M. Bous"'
Autor:
Sophia M. Bous, Emily Hardisty, Benjamin D. Solomon, Heidemarie Neitzel, Maximilian Muenke, Luitgard Graul-Neumann
Publikováno v:
Clinical Dysmorphology. 21:183-190
Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly–polydactyly syndrome (HPS), also termed pseudotrisomy 13. However, the criteria for HPS hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f160558d2e8cb4495d77889dc9fa44f
https://doi.org/10.1097/mcd.0b013e3283551fd0
https://doi.org/10.1097/mcd.0b013e3283551fd0
Autor:
Benjamin D. Solomon, Derek A. T. Cummings, Daniel E. Pineda-Alvarez, Manu S. Raam, Amelia A. Keaton, Sophia M. Bous, Jorge I. Vélez
Publikováno v:
American Journal of Medical Genetics Part A. :2236-2244
VACTERL association is a relatively common condition, though the causes remain poorly understood. We present data on 79 patients diagnosed with VACTERL association and perform statistical analysis on a selected subset of 60 patients with at least thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a340265761000a565bad1f40a430b178
https://doi.org/10.1002/ajmg.a.33572
https://doi.org/10.1002/ajmg.a.33572
Publikováno v:
Zootaxa. 1425:1-10
Members of the genus Amaurobioides construct silk retreats in rock crevices of the marine spray zone, a harsh and unusual habitat for spiders. This study expands the distribution records of three morphological species of Amaurobioides found on the ea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06f7ff3b7714d43450e7abaf2add29e1
https://doi.org/10.11646/zootaxa.1425.1.1
https://doi.org/10.11646/zootaxa.1425.1.1
Publikováno v:
Clinical Dysmorphology. 19:209-211
The presence of VACTERL association may be diagnosed in patients with a combination of the following congenital malformations: Vertebral defects, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, and Limb abnormalities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c7bc1459d233fba32ad239e1e5e2431
https://doi.org/10.1097/mcd.0b013e32833b2b9c
https://doi.org/10.1097/mcd.0b013e32833b2b9c
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
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/
https://europepmc.org/articles/PMC3208626/
