Works about SEX chromosome abnormalities

Results: 511

Application of non-invasive prenatal testing for fetal chromosomal disorders in low-risk pregnancies: a follow-up study in central China.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574775

By:

Huang, Qiuxiang;
Xu, Qiao;
Chen, Meihuan;
Fan, Wenli;
Huang, Hailong

Publication type:

Article

Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 8, p. 1519, doi. 10.1515/cclm-2024-1400

By:

Balle, Camilla Mains;
Lildballe, Dorte L.;
Bedei, Ivonne;
Luschka, Ruth;
Skakkebæk, Anne;
Chang, Simon;
Agirman, Zeynep;
Keller, Jan;
Weber, Axel;
Schäfer, Ramón E.;
Becker-Follmann, Johannes;
Gravholt, Claus H.

Publication type:

Article

Between Concealing and Revealing Intersexed Bodies: Parental Strategies.

Published in:

Qualitative Health Research, 2017, v. 27, n. 10, p. 1562, doi. 10.1177/1049732317697100

By:

Danon, Limor Meoded;
Krämer, Anike

Publication type:

Article

Noninvasive prenatal screening with conventional sequencing depth to screen fetal copy number variants: A retrospective study of 19 144 pregnant women.

Published in:

Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 12, p. 2825, doi. 10.1111/jog.15805

By:

Wang, Zhiwei;
Tang, Xinxin;
Yang, Shuting;
Zhao, Yali;
Yin, Ting;
Chen, Min;
Zhang, Yue;
Wang, Yongan;
Zhang, Fang;
Wang, Leilei

Publication type:

Article

Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

Published in:

Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 12, p. 1821, doi. 10.1111/jog.13451

By:

So, Po Lam;
Cheng, Kwun Yue Yvonne;
Cheuk, Kwan Yiu;
Chiu, Wan Kam;
Mak, Shui Lam;
Mok, Sau Lan;
Lo, Tsz Kin;
Yung, Wai Kuen;
Lo, Fai Man;
Chung, Hon Yin Brian;
Kan, Sik Yau Anita;
Lee, Chin Peng;
Tang, Hoi Yin Mary

Publication type:

Article

Genomic imbalances in the placenta are associated with poor fetal growth.

Published in:

Molecular Medicine, 2021, v. 27, n. 1, p. 1, doi. 10.1186/s10020-020-00253-4

By:

Del Gobbo, Giulia F.;
Yin, Yue;
Choufani, Sanaa;
Butcher, Emma A.;
Wei, John;
Rajcan-Separovic, Evica;
Bos, Hayley;
von Dadelszen, Peter;
Weksberg, Rosanna;
Robinson, Wendy P.;
Yuen, Ryan K. C.

Publication type:

Article

Aortic Dissecting Aneurysm with a Bicuspid Aortic Valve in Turner's Syndrome: Report of a Case.

Published in:

Surgery Today, 2007, v. 37, n. 8, p. 667, doi. 10.1007/s00595-006-3462-8

By:

Hajime Kin;
Hitoshi Okabayashi;
Takayuki Nakajima;
Ken Takahashi

Publication type:

Article

Surgical management of hypospadias in cases with concomitant disorders of sex development.

Published in:

2019

By:

Ochi, Takanori;
Ishiyama, Asuka;
Yazaki, Yuta;
Murakami, Hiroshi;
Takeda, Masahiro;
Seo, Shogo;
Sueyoshi, Ryo;
Lane, Geoffrey J.;
Haruna, Hidenori;
Shimizu, Toshiaki;
Yamataka, Atsuyuki

Publication type:

journal article

Placental apoptosis in normal and abnormal pregnancies.

Published in:

2000

By:

Halperin, R.;
Peller, S.;
Rotschild, M.;
Bukovsky, I.;
Schneider, D.

Publication type:

journal article

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis.

Published in:

Endocrinology Research & Practice, 2024, v. 28, n. 2, p. 130, doi. 10.5152/erp.2024.23344

By:

Eroğlu, Ceren Erdoğan;
Görar, Süheyla;
Paksoy, Barış

Publication type:

Article

A New Sperm Concentration Threshold for Y Chromosome Microdeletion Analysis in Infertile Men: Could It Be Azoopermia?

Published in:

Urology Research & Practice, 2024, v. 50, n. 3, p. 181, doi. 10.5152/tud.2024.24061

By:

Çift, Ali;
Benlioğlu, Can;
Yücel, Mehmet Özgür;
Çevik, Muhammer Özgür;
Kalyenci, Bedreddin;
Gök, Alper;
Sever, Sait;
Sulhan, Hasan;
Bağış, Haydar;
Ayyıldız, Ali

Publication type:

Article

First Case of Sperm Detection by Testicular Sperm Extraction in a Patient With XXY/XX Mosaicism Open Access.

Published in:

JCEM Case Reports, 2025, v. 3, n. 7, p. 1, doi. 10.1210/jcemcr/luaf096

By:

Tahani, Natascia;
Cargnelutti, Francesco;
Spaziani, Matteo;
Paoli, Donatella;
Caprio, Massimiliano;
Isidori, Andrea

Publication type:

Article

Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.

Published in:

JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae076

By:

Eitel, Kelsey B;
Zenno, Anna;
Blasi, Carolina Di;
Fechner, Patricia Y;
Hodax, Juanita K

Publication type:

Article

Klinefelter syndrome with long-arm X-chromosome deletion.

Published in:

2022

By:

Escribano Hernández, Vanesa;
Sanz de Benito, Maria Ángeles;
Carraro Casieri, Raffaelle

Publication type:

Letter

KEY ASPECTS OF DENTAL DIAGNOSTICS AND TREATMENT SPECIFICS IN ECTODERMAL DYSPLASIA PATIENTS: COMPREHENSIVE LITERATURE REVIEW.

Published in:

Journal of Stomatology, 2020, v. 73, n. 6, p. 342, doi. 10.5114/jos.2020.102053

By:

Goncharuk-Khomyn, Myroslav;
Yavuz, Izzet;
Cavalcanti, Alessandro L.;
Boykiv, Alina;
Nahirnyi, Yaroslav

Publication type:

Article

Turner Syndrome: Ocular Manifestations and Considerations for Corneal Refractive Surgery.

Published in:

2022

By:

Moshirfar, Majid;
Parsons, Mark T.;
Lau, Chap-Kay;
Chartrand, Nicholas A.;
Ronquillo, Yasmyne C.;
Hoopes, Phillip C.

Publication type:

Case Study

Triple X Syndrome with a Rare Finding: Cleft Palate.

Published in:

Journal of Pediatric Research, 2018, v. 5, n. 2, p. 100, doi. 10.4274/jpr.32154

By:

Gürkaş, Esra;
Genç, Hülya Maraş;
Kılıç, Esra

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

Turner syndrome through the lens of a gynaecologist.

Published in:

2021

By:

Jivraj, Shehnaaz;
Stillwell, Susan

Publication type:

journal article

Excellence, Deviance, and Gender: Lessons From the XYY Episode.

Published in:

American Journal of Bioethics, 2012, v. 12, n. 7, p. 27, doi. 10.1080/15265161.2012.681338

By:

Shani, Roi;
Barilan, YechielMichael

Publication type:

Article

Pre-pregnancy cytogenetic analysis of general couples in eastern China.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep07224

By:

Yan Yang;
Hexi Wang;
Min Gao;
Shuangshan Xu;
Xiaofen Xu;
Xinyu Cao;
Ying Tao

Publication type:

Article

X monosomy in a British shorthair cat with skeletal abnormalities and behavioral problems.

Published in:

Animal Genetics, 2023, v. 54, n. 5, p. 655, doi. 10.1111/age.13343

By:

Szczerbal, Izabela;
Nowacka‐Woszuk, Joanna;
Rozynek, Jedrzej;
Stachowiak, Monika;
Switonski, Marek

Publication type:

Article

Sex chromosomal abnormalities associated with equine infertility: validation of a simple molecular screening tool in the Purebred Spanish Horse.

Published in:

Animal Genetics, 2017, v. 48, n. 4, p. 412, doi. 10.1111/age.12543

By:

Anaya, G.;
Molina, A.;
Valera, M.;
Moreno‐Millán, M.;
Azor, P.;
Peral‐García, P.;
Demyda‐Peyrás, S.

Publication type:

Article

Chromosomal Aneuploidy Associated With Clinical Characteristics of Pregnancy Loss.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.667697

By:

Gu, Chongjuan;
Li, Kuanrong;
Li, Ru;
Li, Ling;
Li, Xiaojun;
Dai, Xinyu;
He, Yaojuan

Publication type:

Article

Rapp–Hodgkin syndrome and the tail of p63.

Published in:

Clinical & Experimental Dermatology, 2005, v. 30, n. 2, p. 183, doi. 10.1111/j.1365-2230.2004.01715.x

By:

Chan, I.;
McGrath, J. A.;
Kivirikko, S.

Publication type:

Article

A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.

Published in:

Clinical & Experimental Dermatology, 2004, v. 29, n. 5, p. 536, doi. 10.1111/j.1365-2230.2004.01547.x

By:

Lin, T.-K.;
Huang, C.-Y.;
Lin, M.-H.;
Chao, S.-C.

Publication type:

Article

Ectodermal dysplasia showing clinical overlap between AEC, Rapp–Hodgkin and CHAND syndromes.

Published in:

Clinical & Experimental Dermatology, 2004, v. 29, n. 5, p. 486, doi. 10.1111/j.1365-2230.2004.01584.x

By:

Sahin, M. T.;
Turei-Ermertcan, A.;
Chan, I.;
McGrath, J. A.;
Öztürkcan, S.

Publication type:

Article

Palatine ridges and tongue position in Turner syndrome subjects.

Published in:

European Journal of Orthodontics, 2008, v. 30, n. 2, p. 163, doi. 10.1093/ejo/cjm118

By:

Perkiömäki, Marja R.;
Alvesalo, Lassi

Publication type:

Article

Root growth in the permanent teeth of 45,X/46,XX females.

Published in:

European Journal of Orthodontics, 2006, v. 28, n. 4, p. 339, doi. 10.1093/ejo/cji121

By:

Lähdesmäki, Raija;
Alvesalo, Lassi

Publication type:

Article

Learning Disabilities in Children with Sex Chromosome Anomalies.

Published in:

Child Development, 1982, v. 53, n. 5, p. 1182, doi. 10.2307/1129006

By:

Pennington, Bruce F.;
Bender, Bruce;
Puck, Mary;
Salbenblatt, James;
Robinson, Arthur

Publication type:

Article

LAURENCE MOON BIEDL SYNDROME IN A YOUNG GIRL WITH OVERLAPPING FEATURES OF TURNER SYNDROME: A CASE REPORT.

Published in:

Medical Channel, 2010, v. 16, n. 3, p. 465

By:

ULLAH, EHSAN;
IQBAL, MUDASSAR

Publication type:

Article

Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2008, v. 38, n. 9, p. 1634, doi. 10.1007/s10803-008-0542-1

By:

van Rijn, Sophie;
Swaab, Hanna;
Aleman, André;
Kahn, René S.

Publication type:

Article

Two Boys with 47, XXY and Autism.

Published in:

Journal of Autism & Developmental Disorders, 2007, v. 37, n. 5, p. 840, doi. 10.1007/s10803-006-0211-1

By:

Merhar, S. L.;
Manning-Courtney, P.

Publication type:

Article

Current Approach to Genetic Causes of Male Infertility and Genetic Counseling.

Published in:

Duzce Medical Journal, 2022, v. 24, p. 7, doi. 10.18678/dtfd.1183283

By:

BEREKETOĞLU, Muhammed Burak;
ABDULLAYEV, Reshad;
TUĞ BOZDOĞAN, Sevcan

Publication type:

Article

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.

Published in:

Sexual Development, 2023, v. 17, n. 4-6, p. 236, doi. 10.1159/000520704

By:

Vicentin, Julia P.;
de Souza El Beck, Mayra;
Germano, Carlos W.;
Andrade, Juliana G. R.;
Barros, Beatriz A.;
de Paive e Silva, Roberto B.;
Miranda, Marcio L.;
Viguetti-Campos, Nilma L.;
Vieira, Tarsis A. P.;
Mazzola, Tais N.;
Guaragna, Mara S.;
Fabbri-Scallet, Helena;
Mello, Maricilda P.;
Marques-de-Faria, Antonia P.;
Maciel-Guerra, Andrea T.;
Guerra-Junior, Gil

Publication type:

Article

Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service.

Published in:

Sexual Development, 2022, v. 16, n. 4, p. 236, doi. 10.1159/000520704

By:

Vicentin, Julia P.;
de Souza El Beck, Mayra;
Germano, Carlos W.;
Andrade, Juliana G. R.;
Barros, Beatriz A.;
de Paive e Silva, Roberto B.;
Miranda, Marcio L.;
Viguetti-Campos, Nilma L.;
Vieira, Tarsis A. P.;
Mazzola, Tais N.;
Guaragna, Mara S.;
Fabbri-Scallet, Helena;
Mello, Maricilda P.;
Marques-de-Faria, Antonia P.;
Maciel-Guerra, Andrea T.;
Guerra-Junior, Gil

Publication type:

Article

A Search for Disorders of Sex Development among Infertile Men.

Published in:

Sexual Development, 2018, v. 12, n. 6, p. 275, doi. 10.1159/000493877

By:

Yabiku, Rafael S.;
Guaragna, Mara S.;
de Sousa, Lizandra M.;
Fabbri-Scallet, Helena;
Mazzola, Taís N.;
Piveta, Cristiane S.C.;
de Souza, Marcela L.;
Guerra-Júnior, Gil;
de Mello, Maricilda P.;
Maciel-Guerra, andréa T.

Publication type:

Article

Disorder of Sexual Development in a Mare with an Unusual Tentative Mosaic Karyotype: 63,X/64,Xdel(Y).

Published in:

Sexual Development, 2018, v. 12, n. 5, p. 232, doi. 10.1159/000490861

By:

Neuhauser, Stefanie;
Handler, Johannes;
Schelling, Claude;
Pieńkowska-Schelling, aldona

Publication type:

Article

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.

Published in:

Sexual Development, 2018, v. 12, n. 5, p. 211, doi. 10.1159/000490840

By:

Mazen, Inas M.;
Mekkawy, Mona K.;
Ibrahim, Hanan M.;
Kamel, alaa K.;
Hamza, Rasha T.;
Elaidy, aya a.

Publication type:

Article

Importance of Serum Testicular Protein Hormone Measurement in the Assessment of Disorders of Sex Development.

Published in:

Sexual Development, 2018, v. 12, n. 1-3, p. 30, doi. 10.1159/000479572

By:

Freire, Analía V.;
Grinspon, Romina P.;
Rey, Rodolfo A.

Publication type:

Article

Performance of cell free DNA as a screening tool based on the results of first trimester screening.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00702-3

By:

Motevasselian, Mahtab;
Omrani, Mohammad Amin;
Saleh Gargari, Soraya;
Younesi, Sarang;
Taheri Amin, Mohammad Mahdi;
Saadati, Pourandokht;
Jamali, Soudabeh;
Modarresi, Mohammad-Hossein;
Savad, Shahram;
Rahmani, Majid;
Amidi, Saloomeh;
Delshad, Saeed;
Navidpour, Fariba;
Chagheri, Samira;
Mohammadi, Yalda;
Khalilian, Sheyda;
Eslami, Solat;
Ghafouri-Fard, Soudeh

Publication type:

Article

Performance of cell free DNA as a screening tool based on the results of first trimester screening.

Published in:

Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00702-3

By:

Motevasselian, Mahtab;
Omrani, Mohammad Amin;
Saleh Gargari, Soraya;
Younesi, Sarang;
Taheri Amin, Mohammad Mahdi;
Saadati, Pourandokht;
Jamali, Soudabeh;
Modarresi, Mohammad-Hossein;
Savad, Shahram;
Rahmani, Majid;
Amidi, Saloomeh;
Delshad, Saeed;
Navidpour, Fariba;
Chagheri, Samira;
Mohammadi, Yalda;
Khalilian, Sheyda;
Eslami, Solat;
Ghafouri-Fard, Soudeh

Publication type:

Article

Application value of NIPT for uncommon fetal chromosomal abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00508-z

By:

Yin, Lianli;
Tang, Yinghua;
Lu, Qing;
Pan, Aiping;
Shi, Mingfang

Publication type:

Article

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0472-y

By:

He, Si;
Xi, Hui;
Chen, Jing;
Wang, Dan;
Pang, Jialun;
Hu, Jiancheng;
Liu, Qin;
Jia, Zhengjun;
Wang, Hua

Publication type:

Article

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience.

Published in:

BMC Research Notes, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13104-020-05009-1

By:

Margiotti, Katia;
Cesta, Anthony;
Dello Russo, Claudio;
Cima, Antonella;
Barone, Maria Antonietta;
Viola, Antonella;
Sparacino, Davide;
Mesoraca, Alvaro;
Giorlandino, Claudio

Publication type:

Article

Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación.

Published in:

Revista Ciencias de la Salud, 2012, v. 10, n. 1, p. 83

By:

Fonseca Mendoza, Dora Janeth;
Arbeláez, Heidi Mateus;
Silva Aldana, Claudia Tamar

Publication type:

Article

Outcomes of children diagnosed antenatally with sex chromosome aneuploidies.

Published in:

Journal of Paediatrics & Child Health, 2024, v. 60, n. 6, p. 266, doi. 10.1111/jpc.16567

By:

Angley, Eleanor;
Grob, Francisca;
McGillivray, George;
Archibald, Alison;
Fawcett, Susan;
Hui, Lisa;
Welch, John;
Zacharin, Margaret;
White, Mary

Publication type:

Article

The genetic improvement of the water buffalo (Bubalus bubalis): the contribution of the cytogenetics.

Published in:

Revista Veterinaria, 2010, v. 21, n. 1, p. 66

By:

Iannuzzi, Leopoldo

Publication type:

Article

Against the quiet revolution: The rhetorical construction of intersex individuals as disordered.

Published in:

Sexualities, 2013, v. 16, n. 1/2, p. 180, doi. 10.1177/1363460712471113

By:

Topp, Sarah S

Publication type:

Article

Language Development in Sex Chromosome Trisomies: Developmental Profiles at 2 and 4 Years of Age, and Predictive Measures.

Published in:

Developmental Neurorehabilitation, 2022, v. 25, n. 5, p. 337, doi. 10.1080/17518423.2021.2020925

By:

Capelli, Elena;
Silibello, Gaia;
Ajmone, Paola Francesca;
Altamore, Elena;
Lalatta, Faustina;
Vizziello, Paola Giovanna;
Costantino, Maria Antonella;
Zampini, Laura

Publication type:

Article