Works matching Klinefelter syndrome and genetics

Results: 144

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

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

Genetics Corner: Prenatal Diagnosis of Klinefelter Syndrome.

Published in:

2020

By:

Clark, Robin

Publication type:

Case Study

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

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

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

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

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 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

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

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

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

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

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

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

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

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

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

Klinefelter Sendromu ve Fertilite.

Published in:

Turkiye Klinikleri Journal of Internal Medicine / Türkiye Klinikleri İç Hastalıkları Dergisi, 2018, v. 3, n. 1, p. 1, doi. 10.5336/intermed.2017-58450

By:

BEŞTEPE, Nagihan;
ÖZDEMİR, Didem;
ÇAKIR, Bekir

Publication type:

Article

Combined Alport syndrome, Klinefelter syndrome and Fanconi syndrome in a Chinese boy.

Published in:

Nephrology, 2023, v. 28, n. 5, p. 272, doi. 10.1111/nep.14152

By:

Zhang, Hongwen;
Wang, Fang;
Xiao, Huijie

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

Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 3, p. 277, doi. 10.1007/s00431-014-2267-9

By:

Margari, Lucia;
Lamanna, Anna;
Craig, Francesco;
Simone, Marta;
Gentile, Mattia

Publication type:

Article

The Detection of Klinefelter's Syndrome at Birth.

Published in:

Clinical Pediatrics, 1974, v. 13, n. 7, p. 581, doi. 10.1177/000992287401300705

By:

Harris, Jerome S.;
Heller, Richard H.

Publication type:

Article

Genetic Alterations Associated With Cryptorchidism.

Published in:

JAMA: Journal of the American Medical Association, 2008, v. 300, n. 19, p. 2271, doi. 10.1001/jama.2008.668

By:

Ferlin, Alberto;
Zuccarello, Daniela;
Zuccarello, Biagio;
Chirico, Maria Rosaria;
Zanon, Giovanni Franco;
Foresta, Carlo

Publication type:

Article

Two cases of Klinefelter's syndrome diagnosed at a sexually transmitted infection clinic.

Published in:

International Journal of STD & AIDS, 2007, v. 18, n. 7, p. 495, doi. 10.1258/095646207781147229

By:

Dennehy, Mary;
Roberts, Graham A.

Publication type:

Article

Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.

Published in:

Turkish Journal of Psychiatry, 2020, v. 31, n. 3, p. 216, doi. 10.5080/u23940

By:

GENİŞ, Bahadır;
ŞAHİN, Ferit;
COŞAR, Behcet

Publication type:

Article

A case of diabetes mellitus associated with Rett Syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 1/2, p. 197, doi. 10.1515/jpem.2011.337

By:

Akin, Leyla;
Adal, Erdal;
Akin, Mustafa Ali;
Kurtoglu, Selim

Publication type:

Article

Genomic imprinting in the development and evolution of psychotic spectrum conditions.

Published in:

Biological Reviews, 2008, v. 83, n. 4, p. 441, doi. 10.1111/j.1469-185X.2008.00050.x

By:

Crespi, Bernard

Publication type:

Article

A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome.

Published in:

2024

By:

Adams, Louise;
De Bleecker, Jan

Publication type:

Case Study

Robert Edwards: the path to IVF.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2011, v. 23, n. 2, p. 245, doi. 10.1016/j.rbmo.2011.04.010

By:

Johnson, Martin H

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

A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder.

Published in:

2015

By:

Jayaraman, Anu Rita;
Poguri, Maithreyi;
Siva, Nambi

Publication type:

Case Study

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

A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism.

Published in:

Social Cognitive & Affective Neuroscience, 2014, v. 9, n. 12, p. 1926, doi. 10.1093/scan/nst190

By:

Brandenburg-Goddard, Marcia N.;
van Rijn, Sophie;
Rombouts, Serge A.R.B.;
Veer, Ilya M.;
Swaab, Hanna

Publication type:

Article

Presented Abstracts from the Twenty-Ninth Annual Education Conference of the National Society of Genetic Counselors (Dallas, Texas, October 2010).

Published in:

2010

By:

McWalter, Kirsty;
Graham, Lyndsay;
Atzinger, Carrie

Publication type:

Abstract

Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome.

Published in:

2018

By:

Davis, Shanlee M;
Lahlou, Najiba;
Cox-Martin, Matthew;
Kowal, Karen;
Zeitler, Philip S;
Ross, Judith L

Publication type:

journal article

Previously `sterile' men now able to father children.

Published in:

Urology Times, 1998, v. 26, n. 5, p. 6

By:

Fuerst, Mark L.

Publication type:

Article

The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes.

Published in:

Physical & Occupational Therapy in Pediatrics, 2019, v. 39, n. 4, p. 446, doi. 10.1080/01942638.2018.1541040

By:

Martin, Sydney;
Tartaglia, Nicole;
Richardson, Pamela;
Cordeiro, Lisa;
Davis, Shanlee

Publication type:

Article

Gynecomastia and Malignancy: A Case of Male Invasive Ductal Breast Carcinoma Treated with Neoadjuvant Chemotherapy.

Published in:

2022

By:

Mekheal, Erinie;
Kania, Brooke E.;
Kumari, Poona;
Kumar, Vinod;
Maroules, Michael

Publication type:

Case Study

Genetic Diagnosis in Male Infertility

Published in:

Urological Science, 2010, v. 21, n. 2, p. 75, doi. 10.1016/S1879-5226(10)60016-4

By:

Lin, Pei-Yu;
Lin, Yung-Ming

Publication type:

Article

Současný pohled na etiologii vysokého vzrůstu dětí a dospívajících (1): Syndromy spojené s vysokým vzrůstem.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, p. 11

By:

Kateřina, Adamovičová;
Lukáš, Plachý;
Jan, Lebl;
Stanislava, Koloušková;
Štěpánka, Průhová

Publication type:

Article

Clinical evaluation of the infertile male with respect to genetic etiologies.

Published in:

Systems Biology in Reproductive Medicine, 2011, v. 57, n. 1/2, p. 72, doi. 10.3109/19396368.2010.525688

By:

Oates, Robert D.

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

Male Genetic Evaluation in Infertility, Recurrent Abortion and Recurrent in Vitro Fertilization Failure; A Clinical Approach.

Published in:

Urology Journal, 2024, v. 21, n. 4, p. 221, doi. 10.22037/uj.v20i.8044

By:

Akhavizadegan, Hamed

Publication type:

Article

Serum prokineticin-2 in prepubertal and adult Klinefelter individuals.

Published in:

Canadian Journal of Physiology & Pharmacology, 2022, v. 100, n. 2, p. 151, doi. 10.1139/cjpp-2021-0457

By:

Fiore, Marco;
Tarani, Luigi;
Radicioni, Antonio;
Spaziani, Matteo;
Ferraguti, Giampiero;
Putotto, Carolina;
Gabanella, Francesca;
Maftei, Daniela;
Lattanzi, Roberta;
Minni, Antonio;
Greco, Antonio;
Tarani, Francesca;
Petrella, Carla

Publication type:

Article

Quality of life is reduced in patients with Klinefelter syndrome on androgen replacement therapy.

Published in:

European Journal of Endocrinology, 2009, v. 160, n. 3, p. 465, doi. 10.1530/EJE-08-0689

By:

Willem de Ronde

Publication type:

Article