Zobrazeno 1 - 10
of 684
pro vyhledávání: '"Albert Schinzel"'
Publikováno v:
Genes, Vol 12, Iss 5, p 632 (2021)
Chromosomal duplications are associated with a large group of human diseases that arise mainly from dosage imbalance of genes within the rearrangements. Phenotypes range widely but are often associated with global development delay, intellectual disa
Externí odkaz:
https://doaj.org/article/10581463bf7b49a7bce31420ee4d382f
Autor:
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Externí odkaz:
https://doaj.org/article/440a8175bc6a4b288c26413ff92775b4
Publikováno v:
Swiss Medical Weekly, Vol 132, Iss 3334 (2002)
Externí odkaz:
https://doaj.org/article/4d18cfa87b7f49149170ad57e0938e48
Autor:
Neda Saebnia, Reza Ebrahimzadeh-Vesal, Aliakbar Haddad-Mashhadrizeh, Nazanin Gholampour-Faroji, Albert Schinzel, Zeinab Neshati, Mohsen Azimi-Nezhad
Publikováno v:
J Assist Reprod Genet
PURPOSE: To investigate the genetic cause of nonobstructive azoospermia (NOA). METHODS: We performed whole exome sequencing (WES) on the proband who had three relatives suffering from NOA. We used a list of candidate genes which have high expression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0be62fdec62e4ce1c1682382714bf8da
https://www.zora.uzh.ch/id/eprint/219083/
https://www.zora.uzh.ch/id/eprint/219083/
Autor:
Albert Schinzel, Thiago Corrêa, Maytza Mayndra, Cíntia Barros Santos-Rebouças, Mariluce Riegel
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 632, p 632 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 632, p 632 (2021)
Chromosomal duplications are associated with a large group of human diseases that arise mainly from dosage imbalance of genes within the rearrangements. Phenotypes range widely but are often associated with global development delay, intellectual disa
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 187(3)
Microdeletion syndromes (MSs) are a heterogeneous group of genetic diseases that can virtually affect all functions and organs in humans. Although systems biology approaches integrating multiomics and database information into biological networks hav
Autor:
Xue Yan Duan, Bert B.A. de Vries, Michael J. Bamshad, Dorothy K. Grange, Callie S. Kwartler, Deborah A. Nickerson, Dongchuan Guo, Dieter Kotzot, Xuetong Shen, Ellen S. Regalado, Rolph Pfundt, Dianna M. Milewicz, Kenneth Lieberman, Alan C. Braverman, Heather L. Gornik, Lauren Mellor-Crummey, Albert Schinzel, Min-Lee Yang, Santhi K. Ganesh, Dong H. Kim
Publikováno v:
American Journal of Human Genetics, 100, 21-30
American Journal of Human Genetics, 100, 1, pp. 21-30
American Journal of Human Genetics, 100, 1, pp. 21-30
Contains fulltext : 169736.pdf (Publisher’s version ) (Closed access) Fibromuscular dysplasia (FMD) is a heterogeneous group of non-atherosclerotic and non-inflammatory arterial diseases that primarily involves the renal and cerebrovascular arterie
Autor:
Rahim Masood, Beatrice Oneda, Dunja Niedrist, Silvia Azzarello-Burri, Reza Asadollahi, Albert Schinzel, Oskar G. Jenni, Rosa Baldinger, B Latal, Anita Rauch
Publikováno v:
Molecular Syndromology. 8:266-271
Chromosomal mosaicism, which represents a diagnostic challenge for detection and interpretation, has been described in several genetic conditions. It can contribute to a large phenotypic variation in diseases. At analysis of a well-characterized coho
Autor:
Ahmed Al-Rikabi, Niels Tommerup, Krystyna H. Chrzanowska, Nehir Edibe Kurtas, Paolo Reho, Daniela Larizza, Orsetta Zuffardi, Lusine Nazaryan-Petersen, Aldesia Provenzano, Teresa Mattina, Fiorenza Soli, Massimo Delledonne, Luciano Xumerle, Thomas Liehr, Federica Natacci, Edoardo Errichiello, Emmanouil Manolakos, Silvana Guerneri, Maria Clara Bonaglia, Alfredo Brusco, Albert Schinzel, Lorena Leonardelli, Sabrina Giglio
We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a7e254bb5ee77041c542adf3c6cbb3
http://hdl.handle.net/11562/1010895
http://hdl.handle.net/11562/1010895
Autor:
Silvia Sequeira, Kathryn Hendee, Eric Weh, Kala F. Schilter, John A. Phillips, Linda M. Reis, Albert Schinzel, Elena V. Semina, Rebecca C. Tyler
Publikováno v:
Clinical Genetics. 90:378-382
The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three pro