Works matching X chromosome abnormalities

Results: 751

The Possible Role of Chronic Infection in the Etiopathogenesis of a Case of 5q-Syndrome Associated with Tuberculosis and Abnormality of the X Chromosome.

Published in:

Mediterranean Journal of Hematology & Infectious Diseases, 2022, v. 14, n. 1, p. 1, doi. 10.4084/MJHID.2022.079

By:

Mitev, Lubomir;
Grahlyova, Liliya;
Kancheva, Tatiana

Publication type:

Article

Preimplantation genetic testing is not a preferred recommendation for patients with X chromosome abnormalities.

Published in:

2021

By:

Li, Chenxi;
Dang, Yujie;
Li, Jing;
Li, Hongchang;
Zhu, Yueting;
Qin, Yingying

Publication type:

journal article

The Types and Frequencies of X Chromosome Abnormalities in Women with Reproductive Problems.

Published in:

Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 274, doi. 10.1159/000534428

By:

Kouvidi, Elisavet;
Tsarouha, Haralambia;
Zachaki, Sophia;
Katsidi, Christina;
Tsimela, Hara;
Pantou, Amelia;
Kanavakis, Emmanuel;
Mavrou, Ariadni

Publication type:

Article

Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities.

Published in:

Croatian Medical Journal, 2011, v. 52, n. 3, p. 392, doi. 10.3325/cmj.2011.52.392

By:

Gornik, Kristina Crkvenac;
Grubic, Zorana;
Štingl, Katarina;
Đuriševic, Ivana Tonkovic;
Begovic, Davor

Publication type:

Article

Turner syndrome caused by rare complex structural abnormalities involving chromosome X.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 14, n. 3, p. 2265, doi. 10.3892/etm.2017.4756

By:

NIU LI;
LI ZHAO;
JUAN LI;
YU DING;
YONGNIAN SHEN;
XIAODONG HUANG;
XIUMIN WANG;
JIAN WANG

Publication type:

Article

Karyotype Abnormalities in the X Chromosome Predict Response to the Growth Hormone Therapy in Turner Syndrome.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 5076, doi. 10.3390/jcm10215076

By:

Kasprzyk, Jakub;
Włodarczyk, Marcin;
Sobolewska-Włodarczyk, Aleksandra;
Wieczorek-Szukała, Katarzyna;
Stawerska, Renata;
Hilczer, Maciej;
Lewiński, Andrzej

Publication type:

Article

Cytogenetic Analysis of CpG-Oligonucleotide DSP30 plus Interleukin-2-Stimulated Canine B-Cell Lymphoma Cells Reveals the Loss of One X Chromosome as the Sole Abnormality.

Published in:

Cytogenetic & Genome Research, 2011, v. 135, n. 1, p. 79, doi. 10.1159/000330126

By:

Reimann-Berg, N.;
Murua Escobar, H.;
Kiefer, Y.;
Mischke, R.;
Willenbrock, S.;
Eberle, N.;
Nolte, I.;
Bullerdiek, J.

Publication type:

Article

Cytogenetic abnormalities in a sample of females with premature ovarian failure.

Published in:

Middle East Fertility Society Journal, 2022, v. 27, n. 1, p. 1, doi. 10.1186/s43043-022-00098-3

By:

Issa, Noha M.;
Elhady, Ghada M.

Publication type:

Article

Subsequent menstrual disorder after spontaneous menarche in Turner syndrome.

Published in:

Clinical Endocrinology, 2021, v. 95, n. 1, p. 163, doi. 10.1111/cen.14449

By:

Komura, Naoko;
Mabuchi, Seiji;
Sawada, Kenjiro;
Nishio, Yukihiro;
Kimura, Tadashi;
Komura, Hiroko

Publication type:

Article

Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study.

Published in:

Romanian Journal of Cardiology, 2021, v. 31, n. 4, p. 847, doi. 10.47803/rjc.2020.31.4.847

By:

LAZEA, Cecilia;
BUCERZAN, Simona;
AL-KHZOUZ, Camelia;
CRET, Victoria;
CRISAN, Mirela;
MICLEA, Diana;
GRIGORESCU-SIDO, Paula

Publication type:

Article

Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report.

Published in:

2022

By:

Ke Yuan;
Minfei He;
Yanlan Fang;
Jianfang Zhu;
Li Liang;
Chunlin Wang

Publication type:

Case Study

Frequencies of spontaneous breast development and spontaneous menarche in Turner syndrome in Japan.

Published in:

Clinical Pediatric Endocrinology, 2015, v. 24, n. 4, p. 167, doi. 10.1297/cpe.24.167

By:

Toshiaki Tanaka;
Yutaka Igarashi;
Keiichi Ozono;
Kenji Ohyama;
Masamichi Ogawa;
Hisao Osada;
Kazumichi Onigata;
Susumu Kanzaki;
Hitoshi Kohno;
Yoshiki Seino;
Hiroaki Takahashi;
Toshihiro Tajima;
Katsuhiko Tachibana;
Hiroyuki Tanaka;
Yoshikazu Nishi;
Tomonobu Hasegawa;
Keinosuke Fujita;
Tohru Yorifuji;
Reiko Horikawa;
Susumu Yokoya

Publication type:

Article

The Skin in Turner's Syndrome.

Published in:: International Journal of Dermatology, 1995, v. 34, n. 12, p. 840
Publication type:: Article

Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes.

Published in:

Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/640563

By:

Kandukuri, Lakshmi Rao;
Padmalatha, Venkata;
Kanakavalli, Murthy;
Turlapati, Raseswari;
Swapna, Mangalipally;
Vidyadhari, Metuku;
Saranaya, Govindaraghavan;
Himaja, Kattera;
Deenadayal, Mamata;
Sethi, Bipin Kumar;
Deb, Prasun;
Gupta, Nalini;
Chakraborthy, Baidyanath;
Nallari, Pratibha;
Singh, Lalji

Publication type:

Article

The Role of Epigenetics in Primary Biliary Cholangitis.

Published in:

2022

By:

Gerussi, Alessio;
Paraboschi, Elvezia Maria;
Cappadona, Claudio;
Caime, Chiara;
Binatti, Eleonora;
Cristoferi, Laura;
Asselta, Rosanna;
Invernizzi, Pietro

Publication type:

Literature Review

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder.

Published in:

BMC Medical Genetics, 2005, v. 6, p. 3, doi. 10.1186/1471-2350-6-3

By:

Reddy, Kavita S.

Publication type:

Article

Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 5, p. 1247, doi. 10.1007/s10815-021-02127-y

By:

Liao, Jingnan;
Luo, Keli;
Cheng, Dehua;
Xie, Pingyuan;
Tan, Yueqiu;
Hu, Liang;
Lu, Guangxiu;
Gong, Fei;
Lin, Ge

Publication type:

Article

Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome.

Published in:

Chromosome Research, 2020, v. 28, n. 2, p. 155, doi. 10.1007/s10577-019-09621-1

By:

Chadwick, Brian P.

Publication type:

Article

A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.

Published in:

Clinical & Experimental Dermatology, 2019, v. 44, n. 7, p. e240, doi. 10.1111/ced.13979

By:

Shiratori, T.;
Takeichi, T.;
Kono, M.;
Nishida, M.;
Imanishi, A.;
Maekawa, N.;
Kawamura, N.;
Fukai, K.

Publication type:

Article

Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.626924

By:

Ishizuka, Bunpei

Publication type:

Article

Premature ovarian aging in primary infertility: Triple X syndrome.

Published in:

Journal of Human Reproductive Sciences, 2011, v. 4, n. 3, p. 153, doi. 10.4103/0974-1208.92292

By:

Kodandapani, Sreelakshmi;
Pai, Muralidhar V.;
Nambiar, Jayaraman;
Moka, Rajshekar

Publication type:

Article

Might Thyroid Function in Patients with Turner Syndrome Have a Significant Impact on Their Muscle Strength?

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3679, doi. 10.3390/ijms26083679

By:

Krzyscin, Mariola;
Sowińska-Przepiera, Elżbieta;
Bumbulienė, Žana;
Syrenicz, Anhelli

Publication type:

Article

Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3579, doi. 10.3390/ijms26083579

By:

Sarvutiene, Julija;
Ramanavicius, Arunas;
Ramanavicius, Simonas;
Prentice, Urte

Publication type:

Article

Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Published in:

Arthritis & Rheumatology, 2017, v. 69, n. 11, p. 2187, doi. 10.1002/art.40207

By:

Sharma, Rohan;
Harris, Valerie M.;
Cavett, Joshua;
Kurien, Biji T.;
Liu, Ke;
Koelsch, Kristi A.;
Fayaaz, Anum;
Chaudhari, Kaustubh S.;
Radfar, Lida;
Lewis, David;
Stone, Donald U.;
Kaufman, C. Erick;
Li, Shibo;
Segal, Barbara;
Wallace, Daniel J.;
Weisman, Michael H.;
Venuturupalli, Swamy;
Kelly, Jennifer A.;
Pons‐Estel, Bernardo;
Jonsson, Roland

Publication type:

Article

Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

Published in:

Gynecological Endocrinology, 2021, v. 37, n. 9, p. 848, doi. 10.1080/09513590.2021.1939298

By:

Mnif-Feki, M.;
Safi, W.;
Bougacha-Elleuch, N.;
Abid, G.;
Moalla, M.;
Elleuch, M.;
Ben Salah, D. H.;
Rekik, N.;
Belguith, N.;
Abdelhedi, F.;
Kammoun, T.;
Hachicha, M.;
Charfi, N.;
Mnif, F.;
Kammoun, H.;
Hadj Kacem, H.;
Hadj-Kacem, F.;
Abid, M.

Publication type:

Article

DENTAL AND CRANIOFACIAL ANOMALIES IN A PARTICULAR CASE OF TURNER PHENOTYPE.

Published in:

Jurnalul Pediatrului, 2011, v. 14, n. 55/56, p. 45

By:

Capitaneanu, C.;
Belengeanu, Valerica;
Micle, Ioana;
Maris, Ioana;
Cernica, Mihaela;
Belengeanu, D.;
Meszaros, Noemi;
Capitaneanu, Eugenia

Publication type:

Article

The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report.

Published in:

2021

By:

Mousavi, Seyedetahere;
Amiri, Batool;
Beigi, Saidee;
Farzaneh, Mohammadreza

Publication type:

journal article

Severe aplastic anemia with acquired X chromosome clonality as a sole abnormality.

Published in:

Annals of Hematology, 2025, v. 104, n. 1, p. 815, doi. 10.1007/s00277-024-06166-0

By:

Jang, Tim;
Burnside, Rachel D.;
Chaffin, Joanna;
Seifert, Robert;
Hiemenz, John W.

Publication type:

Article

Gonadoblastoma in Patients with Ullrich-Turner Syndrome.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 2, p. 117, doi. 10.2350/14-08-1539-OA.1

By:

ZELAYA, GABRIELA;
LÓPEZ MARTI, JESSICA M.;
MARINO, ROXANA;
GARCIA DE DÁVILA, MARIA T.;
GALLEGO, MARTA S.

Publication type:

Article

Ovarian follicles of young patients with Turner's syndrome contain normal oocytes but monosomic 45,X granulosa cells.

Published in:

2019

By:

Peek, Ronald;
Schleedoorn, Myra;
Smeets, Dominique;
van de Zande, Guillaume;
Groenman, Freek;
Braat, Didi;
van der Velden, Janielle;
Fleischer, Kathrin

Publication type:

journal article

Anti-Müllerian hormone as a predictor of follicular reserve in ovarian insufficiency: special emphasis on FSH-resistant ovaries.

Published in:

Human Reproduction, 2012, v. 27, n. 3, p. 854, doi. 10.1093/humrep/der473

By:

Kallio, S.;
Aittomäki, K.;
Piltonen, T.;
Veijola, R.;
Liakka, A.;
Vaskivuo, T.E.;
Dunkel, L.;
Tapanainen, J.S.

Publication type:

Article

FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients.

Published in:

2002

By:

Mateizel, I.;
Verheyen, G.;
Van Assche, E.;
Tournaye, H.;
Liebaers, I.;
Van Steirteghem, A.

Publication type:

journal article

Role of X chromosome defects in primary biliary cirrhosis.

Published in:

Hepatology Research, 2007, v. 37, p. S384, doi. 10.1111/j.1872-034X.2007.00223.x

By:

Invernizzi, Pietro

Publication type:

Article

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 6, p. 379, doi. 10.1038/jhg.2010.49

By:

Takeshima, Yasuhiro;
Yagi, Mariko;
Okizuka, Yo;
Awano, Hiroyuki;
Zhang, Zhujun;
Yamauchi, Yumiko;
Nishio, Hisahide;
Matsuo, Masafumi

Publication type:

Article

Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality.

Published in:

2016

By:

Manassero-Morales, Gioconda;
Alvarez-Manassero, Denisse;
Merino-Luna, Alfredo

Publication type:

Case Study

A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations.

Published in:

2018

By:

Sahni, Dev R.;
Wallace, Michael;
Kanhere, Mansi;
Al Saif, Hind;
Couser, Natario

Publication type:

Case Study

Cutaneous clues for diagnosing X-chromosomal disorders.

Published in:

Clinical Genetics, 2014, v. 85, n. 4, p. 328, doi. 10.1111/cge.12162

By:

Vreeburg, M.;
Sallevelt, S.C.E.H.;
Stegmann, A.P.A.;
van Geel, M.;
Detisch, Y.J.H.A.;
Schrander‐Stumpel, C.T.R.M.;
van Steensel, M.A.M.;
Marcus‐Soekarman, D.

Publication type:

Article

Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients.

Published in:

Clinical Genetics, 2010, v. 78, n. 2, p. 181, doi. 10.1111/j.1399-0004.2009.01359.x

By:

Lakhal, B.;
Braham, R.;
Berguigua, R.;
Bouali, N.;
Zaouali, M.;
Chaieb, M.;
Veitia, R. A.;
Saad, A.;
Elghezal, H.

Publication type:

Article

A mother with variant Turner syndrome and two daughters with trisomy X: a case report.

Published in:

Journal of Genetics, 2013, v. 92, n. 2, p. 313, doi. 10.1007/s12041-013-0256-9

By:

RAMACHANDRAM, S.;
KENG, W.;
ARIFFIN, R.;
GANESAN, V.

Publication type:

Article

Noninvasive prenatal testing (NIPT) detects variant of Turner syndrome not detectable by fluorescent hybridization.

Published in:

2019

By:

Eswarachari, Venkataswamy;
Kadam, Priya;
Movva, Sireesha;
Lingaiah, Shruthi;
Akther, Riyaz M.;
Kidangan, Franics X.;
Gowda, Kiran C.;
Golakoti, Rudra R. K.;
Lall, Meena;
Mahajan, Surbhi;
Saviour, Pushpa;
Puri, Ratna;
Verma, Ishwar C.;
Vedam, Ramprasad L.

Publication type:

journal article

X chromosome variants are associated with male fertility traits in two bovine populations.

Published in:

Genetics Selection Evolution, 2020, v. 52, n. 1, p. 1, doi. 10.1186/s12711-020-00563-5

By:

Fortes, Marina R. S.;
Porto-Neto, Laercio R.;
Satake, Nana;
Nguyen, Loan T.;
Freitas, Ana Claudia;
Melo, Thaise P.;
Scalez, Daiane Cristina Becker;
Hayes, Ben;
Raidan, Fernanda S. S.;
Reverter, Antonio;
Boe-Hansen, Gry B.

Publication type:

Article

When sex matters: a complete model of X-linked diseases.

Published in:

International Journal of General Systems, 2018, v. 47, n. 6, p. 549, doi. 10.1080/03081079.2018.1473391

By:

Del Vecchio, C.;
Verrilli, F.;
Glielmo, L.

Publication type:

Article

Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0160-5

By:

Yiu, Maria;
Zhongxia Qi;
Ki, Anita;
Jingwei Yu

Publication type:

Article

Complex X chromosome rearrangement associated with multiorgan autoimmunity.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0152-5

By:

Haltrich, Irén;
Pikó, Henriett;
Pamjav, Horolma;
Somogyi, Anikó;
Völgyi, Antónia;
David, Dezső;
Beke, Artúr;
Garamvölgyi, Zoltán;
Kiss, Eszter;
Karcagi, Veronika;
Fekete, György

Publication type:

Article

Intestinal Behçet's disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report.

Published in:

2021

By:

Shimizu, Hiroshi;
Sato, Shuzo;
Suzuki, Tomohiro;
Sasajima, Tomomi;
Takahata, Yosuke;
Shinohara, Nobuhiko;
Hideshima, Kosuke;
Yokokawa, Yuko;
Matsuhashi, Nobuo;
Ichii, Osamu;
Tai, Mayumi;
Ejiri, Yutaka;
Yano, Kiori;
Ikezoe, Takayuki;
Ohira, Hiromasa;
Migita, Kiyoshi

Publication type:

journal article

Female Reproductive Ageing and Chromosomal Abnormalities in a Large Series of Women Undergoing IVF.

Published in:

Cytogenetic & Genome Research, 2021, v. 161, n. 12, p. 551, doi. 10.1159/000521655

By:

Kouvidi, Elisavet;
Zachaki, Sophia;
Tsarouha, Haralampia;
Pantou, Amelia;
Manola, Kalliopi N.;
Kanavakis, Emmanuel;
Mavrou, Ariadni

Publication type:

Article

Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype.

Published in:

Cytogenetic & Genome Research, 2020, v. 160, n. 10, p. 597, doi. 10.1159/000511236

By:

Mendoza, Mayra N.;
Schalnus, Sam A.;
Thomson, Bitsy;
Bellone, Rebecca R.;
Juras, Rytis;
Raudsepp, Terje

Publication type:

Article

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.

Published in:

Application of Clinical Genetics, 2022, v. 15, p. 27, doi. 10.2147/TACG.S357136

By:

Pasińska, Magdalena;
Łazarczyk, Ewelina;
Repczyńska, Anna;
Sobczyńska-Tomaszewska, Agnieszka;
Zimowski, Janusz;
Runge, Agata;
Haus, Olga

Publication type:

Article

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 125, doi. 10.2147/TACG.S299349

By:

Nayel, Dalia Mostafa;
Mahrous, Hanan Salah El Din;
Khalifa, Emad El Din;
Kholeif, Soha;
Elhady, Ghada Mohamed

Publication type:

Article

Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.

Published in:

Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 783, doi. 10.3390/diagnostics10100783

By:

Park, Eu Gene;
Kim, Eun-Jung;
Kim, Eun-Jee;
Kim, Hyun-Young;
Kim, Sun-Hee;
Yang, Aram

Publication type:

Article