Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Autor: Evren Gumus

Publikováno v: Dermatologica Sinica, Vol 37, Iss 3, Pp 150-153 (2019)

Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses. Here, we report a novel homozygous mutation in AL

Externí odkaz: https://doaj.org/article/c1e587eb640041d692320921ae03f41b

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

Autor: Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. Schwartz, Michael J. Friez, Bekim Sadikovic, Roger E. Stevenson

Publikováno v: Wang, J, Foroutan, A, Richardson, E, Skinner, S A, Reilly, J, Kerkhof, J, Curry, C J, Tarpey, P S, Robertson, S P, Maystadt, I, Keren, B, Dixon, J W, Skinner, C, Stapleton, R, Ruaud, L, Gumus, E, Lakeman, P, Alders, M, Tedder, M L, Schwartz, C E, Friez, M J, Sadikovic, B & Stevenson, R E 2022, ' Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 ', European Journal of Human Genetics, vol. 30, no. 4, pp. 420-427 . https://doi.org/10.1038/s41431-021-01018-1
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics, 30(4), 420-427. Nature Publishing Group
Eur J Hum Genet
European journal of human genetics, 30(4), 420-427. Nature Publishing Group

ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases previously reported. No cons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a33912da0927c23e3b9a4aee351a59e
https://doi.org/10.1038/s41431-021-01018-1

A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way?

Autor: Bülent Kati, Evren Gumus, Eyyup Sabri Pelit, Eser Ördek, Halil Ciftci

Publikováno v: Revista Internacional de Andrología. 19:41-48

Introduction In our study, we sought answers to many questions about male infertility from a different perspective. The first step in male infertility is anamnesis, physical examination and sperm count. The European Academy of Andrology recommends ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ffff53f9c243c3fe46aa9033bbb555c
https://doi.org/10.1016/j.androl.2019.08.001

A novel

Autor: Ying, Wang, Evren, Gumus, Siegfried, Hekimi

Publikováno v: Molecular genetics and metabolism reports. 31

Coenzyme Q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0110e72e620ebd21ebfdd57460b419da
https://pubmed.ncbi.nlm.nih.gov/35782625

Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

Autor: Ebru Tuncez, Merve Saka Guvenc, Evren Gumus, Ozlem Oz

Publikováno v: Annals of Human Genetics. 85:27-36

Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this study, while trying to elucidate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc7be91b2fd15f5fb333b6259e01ef1b
https://doi.org/10.1111/ahg.12401