Works matching DE "SEX chromosome abnormalities"

Results: 516

New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities.

Published in:

Endocrine Reviews, 2025, v. 46, n. 4, p. 447, doi. 10.1210/endrev/bnaf005

By:

Lucas-Herald, Angela K;
Aksglaede, Lise;
Caspersen, Ida Dyhr;
Ahmed, S Faisal;
Carlomagno, Francesco;
Isidori, Andrea M

Publication type:

Article

Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2007, v. 64, n. 4, p. 253, doi. 10.2298/VSP0704253D

By:

Dinić, Jelena;
Kušić, Jelena;
Nikolić, Aleksandra;
Divac, Aleksandra;
Ristanović, Momčilo;
Radojković, Dragica

Publication type:

Article

Analysis of Chromosome Test Results of 24,175 Miscarried Fetuses in Japan from 2000 to 2021.

Published in:

Cytogenetic & Genome Research, 2024, v. 164, n. 5/6, p. 194, doi. 10.1159/000542086

By:

Takaki, Haruyoshi;
Kitagawa, Rie;
Takano, Takako

Publication type:

Article

Noninvasive prenatal testing ( NIPT) in Western Australia; Considerations in clinical practice.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2014, v. 54, n. 5, p. 487, doi. 10.1111/ajo.12232

By:

Long, Sarah;
Goldblatt, Jack

Publication type:

Article

Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: An analysis of 57 cases in Taiwan.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2008, v. 48, n. 2, p. 155, doi. 10.1111/j.1479-828X.2008.00828.x

By:

Sheng-Wen Shaw;
Ho-Yen Chueh;
Shuenn-Dyh Chang;
Po-Jen Cheng;
T'sang-T'ang Hsieh;
Yung-Kuei Soong

Publication type:

Article

Development and validation of a novel 26-plex system for prenatal diagnosis with forensic markers.

Published in:

International Journal of Legal Medicine, 2022, v. 136, n. 2, p. 527, doi. 10.1007/s00414-022-02780-7

By:

Xie, Mingkun;
Li, Jienan;
Hu, Huan;
Wang, Panpan;
Cong, Xueqi;
Li, Jingzhi;
Dai, Lei;
Lu, Yang;
Zhang, Weishe

Publication type:

Article

Pulmonary Varix Mimicking Pulmonary Arteriovenous Malformation in a Patient with Turner Syndrome.

Published in:

Respiration, 2007, v. 74, n. 1, p. 110, doi. 10.1159/000087181

By:

Maillard, Jacques-Olivier;
Cottin, Vincent;
Etienne-Mastroïanni, Béédicte;
Frolet, Jean-Marc;
Revel, Didier;
Cordier, Jean-François

Publication type:

Article

OP-11 Prenatal diagnosis of a fetus with 45,X47,XYY mosaicism.

Published in:

2023

By:

Uzunay, Nebahat;
Katlan, Doruk Cevdi

Publication type:

Case Study

Study on Y- Chromosome Microdeletion of AZFc sY239, sY242 and sY254 Loci among Bangladeshi Infertile Male.

Published in:

Bangladesh Journal of Infectious Diseases, 2024, v. 11, n. 1, p. 22, doi. 10.3329/bjid.v11i1.72990

By:

Mukta, Hazera Akter;
Hossain, Md. Biplob;
Islam, Sadia;
Rahaman, Shohanur;
Faruquee, Fatima Anjum;
Rahman, Md. Ashiqur

Publication type:

Article

Audiological features of Turner's syndrome in adults.

Published in:

International Journal of Audiology, 2004, v. 43, n. 9, p. 533, doi. 10.1080/14992020400050068

By:

Beckman, Adam;
Conway, Gerald S.;
Cadge, Barbara

Publication type:

Article

Insights and implications of sexual dimorphism in osteoporosis.

Published in:

Bone Research, 2024, v. 12, n. 1, p. 1, doi. 10.1038/s41413-023-00306-4

By:

Zhang, Yuan-Yuan;
Xie, Na;
Sun, Xiao-Dong;
Nice, Edouard C.;
Liou, Yih-Cherng;
Huang, Canhua;
Zhu, Huili;
Shen, Zhisen

Publication type:

Article

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 414, doi. 10.1111/j.1529-8027.2012.00441.x

By:

Taioli, Federica;
Bertolasi, Laura;
Ajena, Domenico;
Ferrarini, Moreno;
Cabrini, Ilaria;
Crestanello, Alberto;
Fabrizi, Gian Maria

Publication type:

Article

Health Checklist available for the management of Turner Syndrome.

Published in:: British Journal of Midwifery, 2007, v. 15, n. 7, p. 453
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

The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation.

Published in:

British Journal of Dermatology, 2012, v. 166, n. 3, p. 678, doi. 10.1111/j.1365-2133.2011.10620.x

By:

Cluzeau, C.;
Hadj-Rabia, S.;
Bal, E.;
Clauss, F.;
Munnich, A.;
Bodemer, C.;
Headon, D.;
Smahi, A.

Publication type:

Article

Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.

Published in:

British Journal of Dermatology, 2008, v. 158, n. 1, p. 163, doi. 10.1111/j.1365-2133.2007.08231.x

By:

RamaDevi, A. R.;
Reddy, E. C.;
Ranjan, S.;
Bashyam, M. D.

Publication type:

Article

Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome.

Published in:

British Journal of Dermatology, 2006, v. 154, n. 3, p. 546, doi. 10.1111/j.1365-2133.2005.07102.x

By:

Fassihi, H.;
Grace, J.;
Lashwood, A.;
Whittock, N. V.;
Braude, P. R.;
Pickering, S. J.;
McGrath, J. A.

Publication type:

Article

Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.

Published in:

British Journal of Dermatology, 2005, v. 152, n. 6, p. 1339, doi. 10.1111/j.1365-2133.2005.06509.x

By:

Seitz, C. S.;
Hamm, H.

Publication type:

Article

An unusual ectodermal dysplasia with unique eye defects.

Published in:

British Journal of Dermatology, 2005, v. 152, n. 2, p. 365, doi. 10.1111/j.1365-2133.2004.06366.x

By:

Hill, V. A.;
Nischal, K. K.;
Collin, J. R. O.;
Harper, J. I.

Publication type:

Article

Gonadal development and spawning cycle in the digynic hermaphrodite sharpsnout seabream Diplodus puntazzo (Sparidae) off the Canary Islands, northwest of Africa.

Published in:

Journal of Applied Ichthyology, 2008, v. 24, n. 1, p. 68, doi. 10.1111/j.1439-0426.2007.01010.x

By:

Pajuelo, J. G.;
Lorenzo, J. M.;
Domínguez-Seoane, R.

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

A rare variant Klinefelter syndrome seen 40 years later: 47,X,del(Xq24),Y.

Published in:

Andrologia, 2021, v. 53, n. 11, p. 1, doi. 10.1111/and.14213

By:

Özkent, Mehmet Serkan;
Balasar, Özgür

Publication type:

Article

Fluorescence in situ hybridisation analysis of sex chromosome in non-obstructive azoospermic men.

Published in:

Andrologia, 2014, v. 46, n. 3, p. 231, doi. 10.1111/and.12066

By:

Sadik, D. I.;
Seifeldin, N. S.

Publication type:

Article

High number of additional genetic lesions in acute myeloid leukemia with t(8;21)/RUNX1-RUNX1T1: frequency and impact on clinical outcome.

Published in:

Leukemia (08876924), 2014, v. 28, n. 7, p. 1449, doi. 10.1038/leu.2014.4

By:

Krauth, M-T;
Eder, C;
Alpermann, T;
Bacher, U;
Nadarajah, N;
Kern, W;
Haferlach, C;
Haferlach, T;
Schnittger, S

Publication type:

Article

Age has a profound effect on the incidence and significance of chromosome abnormalities in myeloma.

Published in:

Leukemia (08876924), 2005, v. 19, n. 9, p. 1634, doi. 10.1038/sj.leu.2403857

By:

Ross, F. M.;
Ibrahim, A. H.;
Vilain-Holmes, A.;
Winfield, M. O.;
Chiecchio, L.;
Protheroe, R. K. M.;
Strike, P.;
Gunasekera, J. L.;
Jones, A.;
Harrison, C. J.;
Morgan, G. J.;
Cross, N. C. P.

Publication type:

Article

Pentasomy X Syndrome in Neonate: A Rare Disorder.

Published in:

Journal of Clinical & Diagnostic Research, 2021, v. 15, n. 4, p. 1, doi. 10.7860/JCDR/2021/46365.14752

By:

JAGTAP, PRASHANT SANJAY;
MAITI, SMARAJIT;
KOPPAKA, NEERAJA;
KATE, USHANG;
PAIS, ANURITA

Publication type:

Article

Feminized Behavior and Brain Gene Expression in a Novel Mouse Model of Klinefelter Syndrome.

Published in:

Archives of Sexual Behavior, 2014, v. 43, n. 6, p. 1043, doi. 10.1007/s10508-014-0316-0

By:

Ngun, Tuck;
Ghahramani, Negar;
Creek, Michelle;
Williams-Burris, Shayna;
Barseghyan, Hayk;
Itoh, Yuichiro;
Sánchez, Francisco;
McClusky, Rebecca;
Sinsheimer, Janet;
Arnold, Arthur;
Vilain, Eric

Publication type:

Article

Mosaic Ring Chromosome 13 Presented with Isolated Male Infertility: Case Report.

Published in:

International Journal of Fertility & Sterility, 2023, v. 17, n. 3, p. 215, doi. 10.22074/IJFS.2022.548793.1262

By:

Zamanian, Mohammadreza;
Sadjadi, Hesam;
Tahsili, Masoomeh;
Boroujeni, Parnaz Borjian;
Almadani, Navid

Publication type:

Article

Detection of Y Chromosome Microdeletions and Hormonal Profile Analysis of Infertile Men undergoing Assisted Reproductive Technologies.

Published in:

International Journal of Fertility & Sterility, 2018, v. 12, n. 2, p. 173, doi. 10.22074/ijfs.2018.5244

By:

Bahmanimehr, Ardeshir;
Zeighami, Shahryar;
Jahromi, Bahia Namavar;
Anvar, Zahra;
Parsanezhad, Mohammad Ebrahim;
Davari, Maryam;
Montazeri, Somayeh;
Vaziri, Najmeh Moein;
Zarei, Afsoon

Publication type:

Article

Multiplex-Polymerase Chain Reaction for Detecting Microdeletions in The Azoospermia Factor Region of Y Chromosome in Iranian Couples with Non-Obstructive Infertility and Recurrent Pregnancy Loss.

Published in:

International Journal of Fertility & Sterility, 2018, v. 11, n. 4, p. 253, doi. 10.22074/ijfs.2018.5162

By:

Shariatpanahi, Afsaneh Mojtabanezhad;
Ahmadnia, Hassan;
Torkamanzehi, Adam;
Torshizi, Mahnaz Mansouri;
Kerachian, Mohammad Amin

Publication type:

Article

Ohno’s “Peril of Hemizygosity” Revisited: Gene Loss, Dosage Compensation, and Mutation.

Published in:

Genome Biology & Evolution, 2013, v. 5, n. 1, p. 1, doi. 10.1093/gbe/evs106

By:

Hall, David W.;
Wayne, Marta L.

Publication type:

Article

Ethical Issues in Recruiting Prenatally Diagnosed Adults for Research: Klinefelter Syndrome as an Example.

Published in:

Public Health Genomics, 2011, v. 15, n. 1, p. 31, doi. 10.1159/000328845

By:

Herlihy, A.S.;
Halliday, J.L.;
Gillam, L.H.

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

Value of the human chorionic gonadotropin stimulation test in the diagnosis of disorder of sexual development in children.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 2, p. 158, doi. 10.7499/j.issn.1008-8830.2309090

By:

LIANG Cui-Li;
LIU Guo-Chang;
CHENG Jing;
NIU Hui-Lin;
FU Wen;
ZHANG Li-Yu;
JIA Wei;
ZHANG Wen;
LIU Li

Publication type:

Article

Clinical, genetic, and pathological analysis in 165 children with disorders of sex development.

Published in:

Chinese Journal of Contemporary Pediatrics, 2023, v. 25, n. 11, p. 1124, doi. 10.7499/j.issn.1008-8830.2305049

By:

CAO Yan-Yan;
ZANG Ke-Xin;
LIU Ying-Ye;
ZHANG Qiang;
ZHOU Yun;
ZHANG Shuang;
XIA Yao-Fang;
LIU Lei;
CHEN Xiao-Xiao;
ZHAO Shi-Meng;
LIU Li-Jun;
CUI Xiao-Wei

Publication type:

Article

Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.

Published in:

2017

By:

Stagi, Stefano;
Di Tommaso, Mariarosaria;
Scalini, Perla;
Sandini, Elena;
Masoni, Fabrizio;
Chiarelli, Francesco;
Verrotti, Alberto;
Giglio, Sabrina;
Romano, Silvia;
Martino, Maurizio

Publication type:

journal article

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Published in:

2019

By:

Berglund, Agnethe;
Viuff, Mette Hansen;
Skakkebæk, Anne;
Chang, Simon;
Stochholm, Kirstine;
Gravholt, Claus Højbjerg

Publication type:

journal article

Pigmentary Nevi on Face Have Unique Patterns and Implications: The Concept of Blaschko's Lines for Pigmentary Nevi.

Published in:

Indian Journal of Dermatology, 2012, v. 57, n. 1, p. 30, doi. 10.4103/0019-5154.92673

By:

Sarma, Nilendu

Publication type:

Article

Frequent occurrence of cytogenetic abnormalities in sporadic nonmedullary thyroid carcinoma.

Published in:

1990

By:

Jenkins, Robert B.;
Hay, Ian D.;
Herath, John F.;
Schultz, Cloann G.;
Spurbeck, Jack L.;
Grant, Clive S.;
Goellner, John R.;
Dewald, Gordon W.;
Jenkins, R B;
Hay, I D;
Herath, J F;
Schultz, C G;
Spurbeck, J L;
Grant, C S;
Goellner, J R;
Dewald, G W

Publication type:

journal article

Donor‐derived gene mutations in sex chromosome loss after stem cell transplantation.

Published in:

British Journal of Haematology, 2021, v. 195, n. 3, p. e142, doi. 10.1111/bjh.17716

By:

Adachi, Hiroto;
Sadato, Daichi;
Toya, Takashi;
Hirama, Chizuko;
Haraguchi, Kyoko;
Mukae, Junichi;
Shingai, Naoki;
Shimizu, Hiroaki;
Najima, Yuho;
Kobayashi, Takeshi;
Okuyama, Yoshiki;
Oboki, Keisuke;
Harada, Hironori;
Sakamaki, Hisashi;
Ohashi, Kazuteru;
Harada, Yuka;
Doki, Noriko

Publication type:

Article

Sex chromosome loss in adults with haematological neoplasms.

Published in:

British Journal of Haematology, 2015, v. 169, n. 6, p. 899, doi. 10.1111/bjh.13251

By:

Cantú, Eduardo S.;
Moses, Michael D.;
Nemana, Lakshmi J.;
Pierre, Robert V.

Publication type:

Article

Comparison of bone mineral density and body proportions between women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.

Published in:

European Journal of Endocrinology, 2008, v. 159, n. 2, p. 179, doi. 10.1530/EJE-08-0166

By:

T S Han

Publication type:

Article

Insulin sensitivity in Turner's syndrome: influence of GH treatment.

Published in:

European Journal of Endocrinology, 2004, v. 151, n. 3, p. 0351

By:

Giorgio Radetti;
Bruno Pasquino;
Elena Gottardi;
Isabella Boscolo Contadin;
Gianluca Aimaretti;
Franco Rigon

Publication type:

Article

Prediction of Adult Height by Machine Learning Technique.

Published in:

2021

By:

Shmoish, Michael;
German, Alina;
Devir, Nurit;
Hecht, Anna;
Butler, Gary;
Niklasson, Aimon;
Albertsson-Wikland, Kerstin;
Hochberg, Ze'ev

Publication type:

journal article

Amenorrhoea, low body weight and Turner's syndrome.

Published in:

Journal of the Royal Society of Medicine, 1985, v. 78, n. 5, p. 413, doi. 10.1177/014107688507800516

By:

Kennedy, Collette

Publication type:

Article

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.

Published in:

2015

By:

Milani, Donatella;
Bonarrigo, Francesca;
Avignone, Sabrina;
Triulzi, Fabio;
Esposito, Susanna

Publication type:

journal article

Non‐invasive prenatal testing: clinical utility and ethical concerns about recent advances.

Published in:

Medical Journal of Australia, 2021, v. 214, n. 4, p. 168, doi. 10.5694/mja2.50928

By:

Thomas, Joseph;
Harraway, James;
Kirchhoffer, David

Publication type:

Article

Mosaïcisme 47,XXY/46,XX et anomalie de la différenciation sexuelle : à propos d'un cas.

Published in:

Eastern Mediterranean Health Journal, 2014, v. 20, n. 6, p. 403, doi. 10.26719/2014.20.6.403

By:

Lyhyaoui, O.;
Gaouzi, A.

Publication type:

Article

Risk Of Aneuploidy May Increase With Father's Age.

Published in:

Urology Times, 2000, v. 28, n. 2, p. 21

By:

Talsma, Julia

Publication type:

Article