Works matching Klinefelter syndrome and genetics

Results: 148

Prevalence, spermatozoa, hormonal, and genetic evaluation of rare mosaic klinefelter syndrome patients in southern China.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1573292

By:

Li, Derong;
Lai, Yuqing;
Liao, Yujuan;
Pan, Jinjie;
Luo, Yudi;
Liang, Yunning;
Luo, Bowen;
Zhu, Lingling;
Deng, Guosheng;
Li, Xiang;
Feng, Keng;
Lei, Feifei;
Lan, Liuping

Publication type:

Article

An Unexpected Finding of Klinefelter Syndrome during Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Genetic Analysis.

Published in:

Clinical Laboratory, 2024, v. 70, n. 6, p. 1196, doi. 10.7754/Clin.Lab.2024.240105

By:

Chaoli Tan;
Jing Guo;
Jialiang Huang;
Yaoxi Mo;
Youqiong Li

Publication type:

Article

Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients.

Published in:

Cytogenetic & Genome Research, 2018, v. 153, n. 4, p. 190, doi. 10.1159/000487039

By:

Kim, Shin Y.;
Lee, Bom Y.;
Oh, Ah R.;
Park, So Y.;
Lee, Hyo S.;
Seo, Ju T.

Publication type:

Article

P06.09: Prenatal ultrasound and genetic diagnosis of an autosomal recessive polycystic kidney disease associated with Klinefelter syndrome: rare case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 42, p. 135, doi. 10.1002/uog.12990

By:

Albu, D.;
Albu, C.;
Oncescu, A.

Publication type:

Article

Genetics Corner: Prenatal Diagnosis of Klinefelter Syndrome.

Published in:

2020

By:

Clark, Robin

Publication type:

Case Study

Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics.

Published in:

Andrology, 2014, v. 2, n. 4, p. 632, doi. 10.1111/j.2047-2927.2014.00229.x

By:

Skakkebæk, A.;
Bojesen, A.;
Kristensen, M. K.;
Cohen, A.;
Hougaard, D. M.;
Hertz, J. M.;
Fedder, J.;
Laurberg, P.;
Wallentin, M.;
Østergaard, J. R.;
Pedersen, A. D.;
Gravholt, C. H.

Publication type:

Article

Novel genetic aspects of Klinefelter's syndrome.

Published in:

Molecular Human Reproduction, 2010, v. 16, n. 6, p. 386, doi. 10.1093/molehr/gaq019

By:

Tüttelmann, F.;
Gromoll, J.

Publication type:

Article

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.

Published in:

Clinical Genetics, 2006, v. 70, n. 1, p. 43, doi. 10.1111/j.1399-0004.2006.00635.x

By:

Stemkens, D.;
Roza, T.;
Verrij, L.;
Swaab, H.;
van Werkhoven, M.K.;
Alizadeh, B.Z.;
Sinke, R.J.;
Giltay, J.C.

Publication type:

Article

Синдром Клайнфельтера у дітей і підлітків: поєднання генетики й ендокринології

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2019, v. 15, n. 3, p. 223, doi. 10.22141/2224-0721.15.3.2019.172108

By:

Сорокман, Т. В.;
Попелюк, Н. О.;
Макарова, О. В.

Publication type:

Article

Genetic risk of Klinefelter's syndrome in assisted reproductive technology.

Published in:

Reproductive Medicine & Biology, 2017, v. 16, n. 2, p. 188, doi. 10.1002/rmb2.12029

By:

Miki, Tamito;
Nagayoshi, Motoi;
Takemoto, Yoichi;
Yamaguchi, Takashi;
Takeda, Satoru;
Watanabe, Seiji;
Tanaka, Atsushi

Publication type:

Article

A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis.

Published in:

1998

By:

Reubinoff, BE;
Abeliovich, D;
Werner, M;
Schenker, JG;
Safran, A;
Lewin, A;
Reubinoff, B E;
Schenker, J G

Publication type:

journal article

Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children—A Literature Review and Case Report.

Published in:

Children, 2024, v. 11, n. 5, p. 509, doi. 10.3390/children11050509

By:

Panvino, Fabiola;
Paparella, Roberto;
Gambuti, Luisiana;
Cerrito, Andrea;
Menghi, Michela;
Micangeli, Ginevra;
Petrella, Carla;
Fiore, Marco;
Tarani, Luigi;
Ardizzone, Ignazio

Publication type:

Article

Taurodontismus und Klinefelter-Syndrom.

Published in:

Medizinische Genetik, 2007, v. 19, n. 4, p. 432, doi. 10.1007/s11825-007-0047-x

By:

Steffen, R.

Publication type:

Article

Response to 'Prenatal genetic counseling in klinefelter syndrome: Comments on the article by Lalatta and Tint [2013] and a proposal of a new approach' by Pimpolari et al.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 678, doi. 10.1002/ajmg.a.36892

By:

Lalatta, Faustina;
Tint, G Stephen

Publication type:

Article

Prenatal genetic counseling in Klinefelter syndrome: Comments on the article by Lalatta et al. [2013] and a proposal of a new approach.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 450, doi. 10.1002/ajmg.a.36875

By:

Pimpolari, Leonardo;
Liberati, Natascia;
Martini, Michela;
Colloridi, Fiorenza;
Radicioni, Antonio;
Duse, Marzia;
Tarani, Luigi

Publication type:

Article

Birth of a healthy child fathered by a man with Klinefelter's syndrome after preimplantation genetic testing.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2021, v. 78, n. 8, p. 896, doi. 10.2298/VSP190715138T

By:

Trninić-Pjević, Aleksandra;
Milatović, Stevan;
Havrljenko, Jelena;
Kavecan, Ivana;
Kopitović, Aleksandar

Publication type:

Article

Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling†.

Published in:

Human Reproduction, 2011, v. 26, n. 12, p. 3486, doi. 10.1093/humrep/der351

By:

Garcia-Quevedo, L.;
Blanco, J.;
Sarrate, Z.;
Català, V.;
Bassas, L.;
Vidal, F.

Publication type:

Article

Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.

Published in:

Endocrine Reviews, 2018, v. 39, n. 4, p. 389, doi. 10.1210/er.2017-00212

By:

Gravholt, Claus H;
Chang, Simon;
Wallentin, Mikkel;
Fedder, Jens;
Moore, Philip;
Skakkebæk, Anne

Publication type:

Article

Genetic association between AZF region polymorphism and Klinefelter syndrome.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2009, v. 19, n. 4, p. 547, doi. 10.1016/j.rbmo.2009.05.006

By:

Hadjkacem-Loukil, Lobna;
Ghorbel, Myriam;
Bahloul, Ali;
Ayadi, Hammadi;
Ammar-Keskes, Leila

Publication type:

Article

Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.

Published in:

2022

By:

Gaviria, Anibal;
Cadena-Ullauri, Santiago;
Cevallos, Francisco;
Guevara-Ramirez, Patricia;
Ruiz-Pozo, Viviana;
Tamayo-Trujillo, Rafael;
Paz-Cruz, Elius;
Zambrano, Ana Karina

Publication type:

Case Study

Синдром Клайнфельтера в поєднанні із сімейним чоловічим передчасним статевим дозріванням (клінічний випадок).

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2023, v. 19, n. 3, p. 235, doi. 10.22141/2224-0721.19.3.2023.1276

By:

Т. В., Сорокман;
Д. І., Колєснік;
Н. Я., Черней

Publication type:

Article

Klinefelter syndrome with ureteropelvic junction stenosis: case report.

Published in:

BJU International, 2014, v. 114, p. 22

By:

Diansyah, R. N.;
Duarsa, G. W. K.

Publication type:

Article

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

Published in:

Asian Journal of Andrology, 2015, v. 17, n. 1, p. 68, doi. 10.4103/1008-682X.13644

By:

Ounis, Leyla;
Zoghmar, Abdelali;
Coutton, Charles;
Rouabah, Leila;
Hachemi, Maroua;
Martinez, Delphine;
Martinez, Guillaume;
Bellil, Ines;
Khelifi, Douadi;
Arnoult, Christophe;
Fauré, Julien;
Benbouhedja, Sebti;
Rouabah, Abdelkader;
Ray, Pierre F.

Publication type:

Article

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility.

Published in:

Andrology, 2025, v. 13, n. 5, p. 1011, doi. 10.1111/andr.13728

By:

Stallmeyer, Birgit;
Dicke, Ann‐Kristin;
Tüttelmann, Frank

Publication type:

Article

Testicular microlithiasis imaging and follow-up: guidelines of the ESUR scrotal imaging subcommittee.

Published in:

European Radiology, 2015, v. 25, n. 2, p. 323, doi. 10.1007/s00330-014-3437-x

By:

Richenberg, Jonathan;
Belfield, Jane;
Ramchandani, Parvati;
Rocher, Laurence;
Freeman, Simon;
Tsili, Athina;
Cuthbert, Faye;
Studniarek, Michal;
Bertolotto, Michele;
Turgut, Ahmet;
Dogra, Vikram;
Derchi, Lorenzo

Publication type:

Article

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism.

Published in:

2025

By:

Chin, Run Ting;
Mok, Shao Feng

Publication type:

Case Study

Short Stature in Klinefelter Syndrome From Aggrecan Mutation.

Published in:

JCEM Case Reports, 2024, v. 2, n. 10, p. 1, doi. 10.1210/jcemcr/luae170

By:

Farrell, Antoinette;
Sura, Sunitha R

Publication type:

Article

Male Infertility and Reduced Life Expectancy: Epidemiology, Mechanisms, and Clinical Implications.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 11, p. 3930, doi. 10.3390/jcm14113930

By:

Kaltsas, Aris;
Koumenis, Andreas;
Stavropoulos, Marios;
Kratiras, Zisis;
Deligiannis, Dimitrios;
Adamos, Konstantinos;
Chrisofos, Michael

Publication type:

Article

Evaluation of the Genetic Analysis Results in Infertile Patients with Non-Obstructive Azoospermia.

Published in:

Journal of Urological Surgery, 2023, v. 10, n. 3, p. 233, doi. 10.4274/jus.galenos.2022.2022.0066

By:

Şen, Erhan;
Kızılkan, Yalçın;
Duran, Mesut Berkan;
Turunç, Tahsin;
Şahin, Feride İffet;
Özkardeş, Hakan

Publication type:

Article

Genetic defects in human azoospermia.

Published in:

Basic & Clinical Andrology, 2019, v. 29, n. 1, p. N.PAG, doi. 10.1186/s12610-019-0086-6

By:

Ghieh, Farah;
Mitchell, Valérie;
Mandon-Pepin, Béatrice;
Vialard, François

Publication type:

Article

Hydrocephalus of King Charles II of Spain, the Bewitched King.

Published in:

European Neurology, 2019, v. 81, n. 1/2, p. 76, doi. 10.1159/000500719

By:

Turliuc, Mihaela Dana;
Cucu, Andrei Ionut;
Perciaccante, Antonio;
Tosolini, Giulia;
De Luca, Stefano;
Costachescu, Bogdan;
Costea, Claudia Florida

Publication type:

Article

Content Analysis of Social Support, and Disease Framing of Klinefelter Syndrome and Down Syndrome: Social Support, Framing and Decision Tendencies.

Published in:

Health Communication, 2023, v. 38, n. 4, p. 803, doi. 10.1080/10410236.2021.1976949

By:

Liu, Xun Sunny;
Tumolo, Michael;
Biedendorf, Jennifer

Publication type:

Article

Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels.

Published in:

Biochemical Genetics, 2024, v. 62, n. 6, p. 4851, doi. 10.1007/s10528-024-10689-6

By:

Tian, Linlin;
Yu, Yan;
Mao, Ziqing;
Xu, Dandan;
Zhang, Hongbo;
Qiao, Mengkai;
Chen, Tong;
Liu, Wen

Publication type:

Article

Male breast cancer.

Published in:

Aging Male, 2011, v. 14, n. 2, p. 99, doi. 10.3109/13685538.2010.535048

By:

Reis, Leonardo Oliveira;
Dias, Fernando Gf;
Castro, Marcos As;
Ferreira, Ubirajara

Publication type:

Article

Neurofibromatosis Type 1 with Overlap Turner Syndrome and Klinefelter Syndrome.

Published in:

Journal of Tropical Pediatrics, 2010, v. 56, n. 1, p. 69, doi. 10.1093/tropej/fmp053

By:

Hatipoglu, Nihal;
Kurtoglu, Selim;
Kendirci, Mustafa;
Keskin, Mehmet;
Per, Hüseyin

Publication type:

Article

The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population.

Published in:

Yeni Üroloji Dergisi, 2021, v. 16, n. 2, p. 159, doi. 10.33719/yud.2021;16-2-834672

By:

Danacioglu, Yavuz Onur;
Yenice, Mustafa Gurkan;
Akkas, Fatih;
Soytas, Mustafa;
Seyhan, Serhat;
Tasci, Ali Ihsan

Publication type:

Article

Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome.

Published in:

Neurological Sciences, 2024, v. 45, n. 8, p. 4033, doi. 10.1007/s10072-024-07573-x

By:

Cavanna, Andrea E.;
Paini, Giulia;
Purpura, Giulia;
Riva, Anna;
Nacinovich, Renata;
Seri, Stefano

Publication type:

Article

Genetic susceptibility to male infertility: news from genome-wide association studies.

Published in:

Andrology, 2014, v. 2, n. 3, p. 315, doi. 10.1111/j.2047-2927.2014.00188.x

By:

Aston, K. I.

Publication type:

Article

Associated medical disorders and disabilities in children with autistic disorders.

Published in:

Autism: The International Journal of Research & Practice, 2004, v. 8, n. 1, p. 49, doi. 10.1177/1362361304040638

By:

Kielinen, Marko;
Rantala, Heikki;
Timonen, Eija;
Linna, Sirkka-Liisa;
Moilanen, Irma

Publication type:

Article

Developmental arrest at the logographic stage: impaired literacy functions in Klinefelter's XXXY syndrome.

Published in:

Journal of Research in Reading, 1988, v. 11, n. 2, p. 133, doi. 10.1111/j.1467-9817.1988.tb00156.x

By:

Seymour, Philip H.K.;
Evans, Henryka M.

Publication type:

Article

Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men.

Published in:

Urology Annals, 2022, v. 14, n. 1, p. 48, doi. 10.4103/ua.ua_41_21

By:

Degheili, Jad;
Yacoubian, Aline;
Abu Dargham, Rana;
Bachir, Bassel

Publication type:

Article

The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 5, p. 700, doi. 10.1038/ejhg.2014.142

By:

Busch, Alexander S;
Tüttelmann, Frank;
Zitzmann, Michael;
Kliesch, Sabine;
Gromoll, Jörg

Publication type:

Article

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 1, p. 18, doi. 10.1038/ejhg.2013.102

By:

Bourke, Elyssia;
Snow, Pamela;
Herlihy, Amy;
Amor, David;
Metcalfe, Sylvia

Publication type:

Article

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.

Published in:

2022

By:

Houston, Brendan J;
Riera-Escamilla, Antoni;
Wyrwoll, Margot J;
Salas-Huetos, Albert;
Xavier, Miguel J;
Nagirnaja, Liina;
Friedrich, Corinna;
Conrad, Don F;
Aston, Kenneth I;
Krausz, Csilla;
Tüttelmann, Frank;
O'Bryan, Moira K;
Veltman, Joris A;
Oud, Manon S

Publication type:

journal article

Gene panel analysis of literature-based infertility genes in Sertoli cell-only syndrome patients.

Published in:

Genetics & Applications, 2023, p. 1, doi. 10.31383/ga.vol7iss1ga03

By:

Klarić, Monika Logara;
Žunić, Lucija;
Marić, Tihana;
Trgovec-Greif, Lovro;
Rokić, Filip;
Merkler, Ana;
Belužić, Robert;
Vugrek, Oliver;
Bojanac, Ana Katušić;
Barbalić, Maja

Publication type:

Article

Gene panel analysis of literature-based infertility genes in Sertoli cell-only syndrome patients.

Published in:

Genetics & Applications, 2023, v. 7, n. 1, p. 1, doi. 10.31383/ga.vol7iss1ga03

By:

Klarić, Monika Logara;
Žunić, Lucija;
Marić, Tihana;
Trgovec-Greif, Lovro;
Rokić, Filip;
Merkler, Ana;
Belužić, Robert;
Vugrek, Oliver;
Bojanac, Ana Katušić;
Barbalić, Maja

Publication type:

Article

In Vitro Generation of Haploid Germ Cells from Human XY and XXY Immature Testes in a 3D Organoid System.

Published in:

Bioengineering (Basel), 2024, v. 11, n. 7, p. 677, doi. 10.3390/bioengineering11070677

By:

Galdon, Guillermo;
Zarandi, Nima Pourhabibi;
Deebel, Nicholas A.;
Zhang, Sue;
Cornett, Olivia;
Lyalin, Dmitry;
Pettenati, Mark J.;
Lue, YanHe;
Wang, Christina;
Swerdloff, Ronald;
Shupe, Thomas D.;
Bishop, Colin;
Stogner, Kimberly;
Kogan, Stanley J.;
Howards, Stuart;
Atala, Anthony;
Sadri-Ardekani, Hooman

Publication type:

Article

Синдром на Клайнфелтер и аутизъм - клиничен случай.

Published in:

Pediatria, 2020, v. 60, n. 4, p. 64

By:

Велева, Ц.;
Кадъм, А.;
Бонева, И.;
Средкова, М.;
Авджиева-Тзавел&, Д.

Publication type:

Article

Perinatal outcomes following mid trimester detection of isolated short foetal femur length.

Published in:

2018

By:

Smith, M.;
Nicoll, A.

Publication type:

journal article

Anxiety of infertile men who undergo genetic testing for assisted reproductive treatment.

Published in:

Journal of Psychosomatic Obstetrics & Gynecology, 2007, v. 28, n. 3, p. 147, doi. 10.1080/01674820701322095

By:

Terzioglu, Fusun

Publication type:

Article