Works about GONADAL dysgenesis

Results: 541

Combining ATAC-seq and RNA-seq reveals key genes for gonadal abnormalities in one-month-old XX-DSD pigs.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11613-x

By:

Yu, Congying;
Zhong, Bingzhou;
Zhang, Yuqiao;
Zhao, Haiquan;
Wu, Jinhua;
Yu, Haiyi;
Yu, Hui;
Li, Hua

Publication type:

Article

Presence of viable germ cells in testicular regression syndrome remnants: Is routine excision indicated? A systematic review.

Published in:

2018

By:

Nataraja, Ramesh Mark;
Yeap, Evie;
Healy, Costa J.;
Nandhra, Inderpal S.;
Murphy, Feilim L.;
Hutson, John M.;
Kimber, Chris

Publication type:

journal article

Laparoscopic management of impalpable testes: comparison of different techniques.

Published in:

2011

By:

Singh, Rashmi;
Rajimwale, Ashok;
Nour, Shawqui;
Singh, Rashmi R

Publication type:

journal article

Interaction of chronic pain, obesity and time of day on cortisol in female human adolescents.

Published in:

Stress: The International Journal on the Biology of Stress, 2022, v. 25, n. 1, p. 331, doi. 10.1080/10253890.2022.2142778

By:

Raff, Hershel;
Phillips, Jonathan;
Simpson, Pippa;
Weisman, Steven J.;
Hainsworth, Keri R.

Publication type:

Article

A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate.

Published in:

Child's Nervous System, 2021, v. 37, n. 1, p. 329, doi. 10.1007/s00381-020-04639-x

By:

Singhapakdi, Kanya;
Maertens, Paul;
Gonzalez, Juan;
Soh, Peter;
Bhat, Ramachandra;
Jha, Om Prakash

Publication type:

Article

Do junctional neural tube defect and segmental spinal dysgenesis have the same pathoembryological background?

Published in:

2020

By:

Eibach, Sebastian;
Pang, Dachling

Publication type:

Letter

Do junctional neural tube defect and segmental spinal dysgenesis have the same pathoembryological background?

Published in:

Child's Nervous System, 2020, v. 36, n. 2, p. 241, doi. 10.1007/s00381-019-04425-4

By:

Wang, Kyu-Chang;
Lee, Jong Seok;
Kim, Keewon;
Im, Young Jae;
Park, Kwanjin;
Kim, Kyung Hyun;
Phi, Ji Hoon;
Kim, Seung-Ki;
Lee, Ji Yeoun

Publication type:

Article

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00070-5

By:

Hassan, Heba A.;
Mazen, Inas;
Mekkawy, Mona K.;
Elaidy, Aya;
Kamel, Alaa;
Essawi, Mona L.

Publication type:

Article

Psychological aspects in anonymous and non-anonymous oocyte donation.

Published in:

1994

By:

Weil, E;
Cornet, D;
Sibony, C;
Mandelbaum, J;
Salat-Baroux, J

Publication type:

journal article

Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.

Published in:

Turkish Archives of Pediatrics, 2024, v. 59, n. 5, p. 476, doi. 10.5152/TurkArchPediatr.2024.24095

By:

Çetiner, Ebru Barsal;
Donbaloğlu, Zeynep;
Singin, Berna;
Behram, Bilge Aydın;
Çetin, Kürşat;
Karagüzel, Güngör;
Tuhan, Hale;
Parlak, Mesut

Publication type:

Article

Etiology of Primary Amenorrhea: Experience from a Tertiary Care Hospital in Western India.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2021, v. 14, n. 6, p. 674, doi. 10.4103/mjdrdypu.mjdrdypu_395_20

By:

Mishra, Rajesh Kumar;
Kohli, Uttara Aiyer;
Seth, Atul;
Tripathy, Sumeet Ranjan

Publication type:

Article

Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey.

Published in:

Journal of the Endocrine Society, 2019, v. 3, n. 6, p. 1185, doi. 10.1210/js.2018-00408

By:

Aydin, Banu Kucukemre;
Saka, Nurcin;
Bas, Firdevs;
Bas, Evrim Kiray;
Coban, Asuman;
Yildirim, Sukran;
Guran, Tulay;
Darendeliler, Feyza

Publication type:

Article

The effect of aqueous extract of orchid root on the structure of ovary and hypothalamicpituitary-gonadal hormones in polycystic ovary syndrome rat model: An experimental study.

Published in:

International Journal of Reproductive Biomedicine, 2024, v. 22, n. 3, p. 203, doi. 10.18502/ijrm.v22i3.16164

By:

Abedi, Hassanali;
Zarrin-Mehr, Armin;
Ebrahimi, Bahareh;
Haghshenas, Hoda;
Parvin, Negar;
Jahromi, Hossein Kargar

Publication type:

Article

Sex assignment and psychosexual peculiarities of individuals with different forms of androgen insensitivity syndrome: A qualitative study.

Published in:

International Journal of Reproductive Biomedicine, 2023, v. 21, n. 12, p. 985, doi. 10.18502/ijrm.v21i12.15036

By:

Kristesashvili, Jenaro;
Kobaladze, Levan;
Chipashvili, Mariam;
Jibladze, Anna

Publication type:

Article

A-266 Neuropsychological Profile of a 5-Year-Old Boy with Gould Syndrome.

Published in:

2022

By:

Cap, Caitlyn J;
Manning, Madeline;
Ball, Kayleen

Publication type:

Case Study

Gender Identity Issues in Children and Adolescents.

Published in:

Issues in Law & Medicine, 2016, v. 31, n. 2, p. 235

By:

Van Meter, Quentin L.

Publication type:

Article

Frasier Syndrome: A Rare Disorder in a Patient With Nephrotic Syndrome.

Published in:

Journal of Pediatric Nephrology, 2021, v. 9, n. 1, p. 1, doi. 10.22037/jpn.v9i1.32422

By:

Sultana, Azmeri;
Hanif, Mohammed;
Muinuddin, Golam

Publication type:

Article

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1514

By:

Al Shamsi, Aisha;
Al Hassani, Noura;
Hamchou, Moustafa;
Almazrouei, Raya;
Mhanni, Aziz

Publication type:

Article

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.558

By:

Wagner‐Mahler, Kathy;
Kurzenne, Jean‐Yves;
Gastaud, Frederique;
Hoflack, Marie;
Panaia Ferrari, Patricia;
Berard, Etienne;
Giuliano, Fabienne;
Karmous‐Benailly, Houda;
Moceri, Pamela;
Jouannelle, Celine;
Bourcier, Marine;
Robart, Elise;
Morel, Yves

Publication type:

Article

ЕФЕКТИ ГЕНОМНОЇ НЕСТАБІЛЬНОСТІ В ПОПУЛЯЦІЯХ DROSOPHІLA MELANOGASTER ІЗ РІЗНИХ ЗА ВПЛИВОМ РАДІАЦІЙНОГО ФАКТОРА РЕГІОНІВ УКРАЇНИ.

Published in:

Nuclear Physics & Atomic Energy, 2021, v. 22, n. 2, p. 174, doi. 10.15407/jnpae2021.02.174

By:

Кравець, О. П.;
Соколова, Д. О.;
Ковальчук, Н. Л.

Publication type:

Article

Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2015, v. 46, n. 1, p. 60, doi. 10.1002/uog.14655

By:

Kagan, K. O.;
Sonek, J.;
Berg, X.;
Berg, C.;
Mallmann, M.;
Abele, H.;
Hoopmann, M.;
Geipel, A.

Publication type:

Article

OP27.08: A rare case of 45,X/46, XY mixed gonadal dysgenesis presenting antenatally with ambiguous genitalia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 129, doi. 10.1002/uog.13904

By:

Kutuk, M.S.;
Sahin, M.;
Kulengir, E.;
Okdemir, D.;
Ozgun, M.T.

Publication type:

Article

P18.16: One case of mixed gonadal dysgenesia.

Published in:

Ultrasound in Obstetrics & Gynecology, 2010, v. 36, n. S1, p. 242, doi. 10.1002/uog.8568

By:

Duyos, J. A.

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

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0

By:

Ayers, Katie L.;
Eggers, Stefanie;
Rollo, Ben N.;
Smith, Katherine R.;
Davidson, Nadia M.;
Siddall, Nicole A.;
Zhao, Liang;
Bowles, Josephine;
Weiss, Karin;
Zanni, Ginevra;
Burglen, Lydie;
Ben-Shachar, Shay;
Rosensaft, Jenny;
Raas-Rothschild, Annick;
Jørgensen, Anne;
Schittenhelm, Ralf B.;
Huang, Cheng;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Casagranda, Franca

Publication type:

Article

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39040-0

By:

Ayers, Katie L.;
Eggers, Stefanie;
Rollo, Ben N.;
Smith, Katherine R.;
Davidson, Nadia M.;
Siddall, Nicole A.;
Zhao, Liang;
Bowles, Josephine;
Weiss, Karin;
Zanni, Ginevra;
Burglen, Lydie;
Ben-Shachar, Shay;
Rosensaft, Jenny;
Raas-Rothschild, Annick;
Jørgensen, Anne;
Schittenhelm, Ralf B.;
Huang, Cheng;
Robevska, Gorjana;
van den Bergen, Jocelyn;
Casagranda, Franca

Publication type:

Article

DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 2, p. 206, doi. 10.1159/000537761

By:

Shimura, Kazuhiro;
Ichihashi, Yosuke;
Nakano, Satsuki;
Sato, Takeshi;
Hamajima, Takashi;
Numasawa, Keita;
Narumi, Satoshi;
Hasegawa, Tomonobu;
Ishii, Tomohiro

Publication type:

Article

DHX37 and the Implications in Disorders of Sex Development: An Update Review.

Published in:

Hormone Research in Paediatrics, 2024, v. 97, n. 5, p. 433, doi. 10.1159/000535969

By:

de Oliveira, Felipe Rodrigues;
Guaragna, Mara Sanches;
Maciel-Guerra, Andréa Trevas;
Barros, Beatriz Amstalden;
de Mello, Maricilda Palandi;
Guerra-Junior, Gil;
Fabbri-Scallet, Helena

Publication type:

Article

Monogenic Forms of DSD: An Update.

Published in:

Hormone Research in Paediatrics, 2023, v. 96, n. 2, p. 144, doi. 10.1159/000521381

By:

McElreavey, Kenneth;
Bashamboo, Anu

Publication type:

Article

Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome.

Published in:

Revista Paulista de Pediatria, 2016, v. 34, n. 1, p. 114, doi. 10.1016/j.rppede.2015.12.004

By:

Trovó de Marqui, Alessandra Bernadete;
da Silva-Grecco, Roseane Lopes;
Spadotto Balarin, Marly Aparecida

Publication type:

Article

CONGENITAL ABSENCE OF UTERUS.

Published in:

Gomal Journal of Medical Sciences, 2019, v. 17, n. 1, p. 24, doi. 10.46903/gjms/17.01.2015

By:

Anwar, Sadia

Publication type:

Article

Disgenesia gonadal mixta: un caso de síndrome de Turner en mosaicismo 45,X/47,XYY.

Published in:

2018

By:

González, J. L.;
Sepúlveda-Agudelo, J.

Publication type:

Case Study

Reporte de caso: síndrome de Schaaf Yang.

Published in:

Salud Uninorte, 2021, v. 37, n. 2, p. 525, doi. 10.14482/sun.37.2.618.928

By:

CANO WILCHES, BEATRIZ ELENA;
BALLESTEROS RIVERA, YUDI FERNANDA;
RODRÍGUEZ VILLANUEVA, ASID DE JESÚS

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

以严重高血压就诊的17α- 羟化酶缺乏症.

Published in:

Chinese Journal of Contemporary Pediatrics, 2019, v. 20, n. 8, p. 675, doi. 10.7499/j.issn.1008-8830.2018.08.014

By:

魏红玲;
鲁珊;
王新利 ;
李佳蔚 ;
崔蕴璞 ;
姚燕生

Publication type:

Article

Successful term vaginal delivery in a 46,XY woman

Published in:

2008

By:

Siddique, Haroon;
Daggett, Peter;
Artley, Kevin

Publication type:

journal article

Peters Plus syndrome: a recognizable clinical entity.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 1, p. 136, doi. 10.24953/turkjped.2020.01.020

By:

Demir, Gizem Ürel;
Lafcı, Naz Güleray;
Doğan, Özlem Akgün;
Şimşek Kiper, Pelin Özlem;
Utine, Gülen Eda

Publication type:

Article

A rare chromosomal disorder in a newborn: Trisomy 3q.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 271, doi. 10.24953/turkjped.2019.02.018

By:

Kahvecioğlu, Dilek;
Tatar-Aksoy, Hatice;
Yıldız, Eren;
Bakır, Abdullatif;
Alioğlu, Bülent

Publication type:

Article

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.

Published in:

Reproductive Biology & Endocrinology, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12958-024-01309-4

By:

Ding, Leilei;
Deng, Shan;
Zhang, Pan;
Zhang, Duoduo;
Tian, Qinjie

Publication type:

Article

Challenges in the Diagnosis of XY Differences of Sexual Development.

Published in:

2022

By:

Bumbulienė, Žana;
Bužinskienė, Diana;
Banuškevičienė, Greta;
Šidlovska, Evelina;
Preikšaitienė, Eglė;
Utkus, Algirdas

Publication type:

Case Study

P element activity and molecular structure in Drosophila melanogaster populations from Firtina Valley, Turkey.

Published in:

Journal of Insect Science, 2014, v. 14, p. 1, doi. 10.1673/031.014.16

By:

Ondera, Banu Sebnem;
Kasap, Ozge Erisöz

Publication type:

Article

A case report of bladder and intestinal endometriosis, and the relationship between sex hormone receptor expression and PIK3CA mutation analysis.

Published in:

2021

By:

Kanto, Akiko;
Kotani, Yasushi;
Murakami, Kosuke;
Miyagawa, Chiho;
Nakai, Hidekatsu;
Matsumura, Noriomi

Publication type:

journal article

Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.

Published in:

Congenital Anomalies, 2019, v. 59, n. 5, p. 174, doi. 10.1111/cga.12309

By:

Corona‐Rivera, Jorge Román;
Corona‐Rivera, Alfredo;
Zepeda‐Romero, Luz Consuelo;
Rios‐Flores, Izabel Maryalexandra;
Rivera‐Vargas, Jehú;
Orozco‐Vela, Mireya;
Santana‐Bejarano, Uriel Francisco;
Torres‐Anguiano, Elizabeth;
Pinto‐Cardoso, Manuela;
David, Dezső;
Bobadilla‐Morales, Lucina

Publication type:

Article

Prevalence, distribution, and risk markers for the development of gonadal germ cell tumors in patients with certain types of disorders of sexual differentiation with Y chromosome - A retrospective study.

Published in:

Indian Journal of Cancer, 2023, v. 60, n. 4, p. 464, doi. 10.4103/ijc.IJC_1218_20

By:

Das, Darvin V.;
Jabbar P. K.;
Gomez, Ramesh;
Nambisan, Bindu;
Bhuvitha M. S.;
Nair, Abilash;
Jayakumari, C.

Publication type:

Article

Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm.

Published in:

Archives of Gynecology & Obstetrics, 2023, v. 308, n. 4, p. 1287, doi. 10.1007/s00404-022-06814-8

By:

Simonini, Corinna;
Fröschen, Eva-Maria;
Nadal, Jennifer;
Strizek, Brigitte;
Berg, Christoph;
Geipel, Annegret;
Gembruch, Ulrich

Publication type:

Article

Preoperative Magnetic Resonance Imaging Cannot Predict the Presence of a Rare Myoid Gonadal Stromal Testicular Tumor: A Case Report.

Published in:

2023

By:

Madendere, Serdar;
Kılıç, Mert;
Yıldırım, Hakan;
Ekemen, Süheyla;
Yıldız, Demir Kürşat;
Balbay, Mevlana Derya

Publication type:

Case Study

45,X/46,XY Mosaicism with Male Phenotype: Case Report.

Published in:

2022

By:

Carreño-Martínez, Angie Carolina;
Mendoza Rojas, Victor Clemente;
Gil Forero, Julian Arturo;
Figueroa, Victor Hugo;
Contreras-García, Gustavo Adolfo

Publication type:

Case Study

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism.

Published in:

Urologia Internationalis, 2018, v. 101, n. 4, p. 481, doi. 10.1159/000484615

By:

Akinsal, Emre Can;
Baydilli, Numan;
Bayramov, Ruslan;
Ekmekcioglu, Oguz

Publication type:

Article

Menopause: a trigger for simultaneous development of ulcerative colitis in sigmoid neovagina and residual colorectum?

Published in:

Minerva Obstetrics & Gynecology, 2024, v. 76, n. 3, p. 293, doi. 10.23736/S2724-606X.23.05224-7

By:

CANDIANI, Massimo;
FEDELE, Francesco;
DI FATTA, Simona;
TACCAGNI, Gianluca;
DOLCI, Carolina;
RUFFOLO, Alessandro F.

Publication type:

Article

Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.

Published in:

2017

By:

Shojaei, Azadeh;
Ebrahimzadeh-Vesal, Reza;
Ali, Ahani;
Razzaghy-Azar, Maryam;
khakpour, Golnaz;
Ghazi, Farideh;
Tavakkoly-Bazzaz, Javad

Publication type:

Book Chapter