Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 1

Results: 13

Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

Published in:

2021

By:

Salas-Huetos, Albert;
Tüttelmann, Frank;
Wyrwoll, Margot J.;
Kliesch, Sabine;
Lopes, Alexandra M.;
Gonçalves, João;
Boyden, Steven E.;
Wöste, Marius;
Hotaling, James M.;
GEMINI Consortium;
Conrad, Donald F.;
Aston, Kenneth I.;
Carrell, Douglas T.;
Nagirnaja, Liina;
Jenkins, Timothy G.;
O'Bryan, Moira K.;
McLachlan, Rob;
Schlegel, Peter N.;
Eisenberg, Michael L.;
Sandlow, Jay I.

Publication type:

Correction Notice

Editorial for the special issue on the molecular genetics of male infertility.

Published in:

2021

By:

Krausz, Csilla

Publication type:

Editorial

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 217, doi. 10.1007/s00439-020-02236-1

By:

Salas-Huetos, Albert;
Tüttelmann, Frank;
Wyrwoll, Margot J.;
Kliesch, Sabine;
Lopes, Alexandra M.;
Goncalves, João;
Boyden, Steven E.;
Wöste, Marius;
Hotaling, James M.;
GEMINI Consortium;
Conrad, Donald F.;
Aston, Kenneth I.;
Carrell, Douglas T.;
Nagirnaja, Liina;
Jenkins, Timothy G.;
O'Bryan, Moira K.;
McLachlan, Rob;
Schlegel, Peter N.;
Eisenberg, Michael L.;
Sandlow, Jay I.

Publication type:

Article

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 43, doi. 10.1007/s00439-020-02229-0

By:

Celse, Tristan;
Cazin, Caroline;
Mietton, Flore;
Martinez, Guillaume;
Martinez, Delphine;
Thierry-Mieg, Nicolas;
Septier, Amandine;
Guillemain, Catherine;
Beurois, Julie;
Clergeau, Antoine;
Mustapha, Selima Fourati Ben;
Kharouf, Mahmoud;
Zoghmar, Abdelali;
Chargui, Ahmed;
Papaxanthos, Aline;
Dorphin, Béatrice;
Foliguet, Bernard;
Triki, Chema;
Sifer, Christophe;
Lauton, Dominique

Publication type:

Article

Disease gene discovery in male infertility: past, present and future.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 7, doi. 10.1007/s00439-020-02202-x

By:

Xavier, M. J.;
Salas-Huetos, A.;
Oud, M. S.;
Aston, K. I.;
Veltman, J. A.

Publication type:

Article

The genetic architecture of morphological abnormalities of the sperm tail.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 21, doi. 10.1007/s00439-020-02113-x

By:

Touré, Aminata;
Martinez, Guillaume;
Kherraf, Zine-Eddine;
Cazin, Caroline;
Beurois, Julie;
Arnoult, Christophe;
Ray, Pierre F.;
Coutton, Charles

Publication type:

Article

A framework for high-resolution phenotyping of candidate male infertility mutants: from human to mouse.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 155, doi. 10.1007/s00439-020-02159-x

By:

Houston, Brendan J.;
Conrad, Donald F.;
O'Bryan, Moira K.

Publication type:

Article

The X chromosome and male infertility.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 203, doi. 10.1007/s00439-019-02101-w

By:

Vockel, Matthias;
Riera-Escamilla, Antoni;
Tüttelmann, Frank;
Krausz, Csilla

Publication type:

Article

Genetics of the congenital absence of the vas deferens.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 59, doi. 10.1007/s00439-020-02122-w

By:

Bieth, Eric;
Hamdi, Safouane M.;
Mieusset, Roger

Publication type:

Article

Evaluating genetic causes of azoospermia: What can we learn from a complex cellular structure and single-cell transcriptomics of the human testis?

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 183, doi. 10.1007/s00439-020-02116-8

By:

Soraggi, Samuele;
Riera, Meritxell;
Rajpert-De Meyts, Ewa;
Schierup, Mikkel H.;
Almstrup, Kristian

Publication type:

Article

Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 135, doi. 10.1007/s00439-020-02112-y

By:

Kasak, Laura;
Laan, Maris

Publication type:

Article

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 113, doi. 10.1007/s00439-020-02148-0

By:

Butz, Henriett;
Nyírő, Gábor;
Kurucz, Petra Anna;
Likó, István;
Patócs, Attila

Publication type:

Article

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.

Published in:

Human Genetics, 2021, v. 140, n. 1, p. 77, doi. 10.1007/s00439-020-02147-1

By:

Cangiano, Biagio;
Swee, Du Soon;
Quinton, Richard;
Bonomi, Marco

Publication type:

Article