Human Genome Epidemiology Literature Finder
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Query Trace: Disorders of Sex Development and SRY[original query] |
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Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2015 9 (3): 136-43. Serra Alexandre, Denzer Friederike, Hiort Olaf, Barth Thomas F, Henne-Bruns Doris, Barbi Gotthold, Rettenberger Günther, Wabitsch Martin, Just Walter, Leriche Clothil |
Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development. Reports of biochemistry & molecular biology 2017 11 6 (1): 59-65. Shojaei Azadeh, Ebrahimzadeh-Vesal Reza, Ahani Ali, Razzaghy-Azar Maryam, Khakpour Golnaz, Ghazi Farideh, Tavakkoly-Bazzaz Jav |
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris). PloS one 2017 10 12 (10): e0186331. Meyers-Wallen Vicki N, Boyko Adam R, Danko Charles G, Grenier Jennifer K, Mezey Jason G, Hayward Jessica J, Shannon Laura M, Gao Chuan, Shafquat Afrah, Rice Edward J, Pujar Shashikant, Eggers Stefanie, Ohnesorg Thomas, Sinclair Andrew |
Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Animal genetics 2019 9 50 (6): 705-711. Krzeminska P, Nizanski W, Nowacka-Woszuk J, Switonski |
Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis. Gene 2019 8 718 144072. Xue Mei, Wang Xiang, Li Cui, Zhao Minggang, He Fang, Li |
Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study. PloS one 2019 14 (6): e0218565. Nowacka-Woszuk Joanna, Szczerbal Izabela, Stachowiak Monika, Szydlowski Maciej, Nizanski Wojciech, Dzimira Stanislaw, Maslak Artur, Payan-Carreira Rita, Wydooghe Eline, Nowak Tomasz, Switonski Mar |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019 5 13 (2): 92-98. Krzemi?ska Paulina, D'Anza Emanuele, Ciotola Francesca, Paciello Orlando, Restucci Brunella, Peretti Vincenzo, Albarella Sara, Switonski Mar |
Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2021 8 37 (10): 934-940. Xia Junke, Wu Jing, Chen Chen, Zhao Zhenhua, Xie Yanchuan, Bai Zhouxian, Kong Xiangdo |
Copy number variation of the SRY gene showed an association with disorders of sex development in Yorkshire Terrier dogs. Animal genetics 2021 10 53 (1): 152-155. Krzeminska P, Nowacka-Woszuk J, Switonski |
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. European journal of medical genetics 2021 1 64 (3): 104154. Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr |
Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. Genomics 2022 5 114 (4): 110389. Nowacka-Woszuk Joanna, Stachowiak Monika, Szczerbal Izabela, Szydlowski Maciej, Szabelska-Beresewicz Alicja, Zyprych-Walczak Joanna, Krzeminska Paulina, Nowak Tomasz, Lukomska Anna, Ligocka Zuzanna, Biezynski Janusz, Dzimira Stanislaw, Nizanski Wojciech, Switonski Mar |
SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis. African health sciences 2021 Sep 21 (3): 1491-1497. Kherouatou-Chaoui Naouel, Chellat-Rezgoune Djalila, Rezgoune Mohamed Larbi, Mc Elreavey Ken, Touabti Laaldja Souhem, Abadi Noreddine, Satta Dali |
Cytogenetic and molecular insight into the genetic background of disorders of sex development in seventeen cats. Scientific reports 2022 10 12 (1): 17807. Stachowiak Monika, Szczerbal Izabela, Nowacka-Woszuk Joanna, Nowak Tomasz, Sowinska Natalia, Lukomska Anna, Gogulski Maciej, Badura Malgorzata, Sklorz-Mencel Karolina, Jagodka Dariusz, Nizanski Wojciech, Dzimira Stanislaw, Switonski Mar |
Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development. Molecular human reproduction 2023 1 29 (2): . Kulkarni Vinayak, Chellasamy Selvaa Kumar, Dhangar Somprakash, Ghatanatti Jagdeeshwar, Vundinti Babu R |
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. Reproductive biology and endocrinology : RB&E 2023 1 21 (1): 2. Rjiba Khouloud, Mougou-Zerelli Soumaya, Hamida Imen Hadj, Saad Ghada, Khadija Bochra, Jelloul Afef, Slimani Wafa, Hasni Yosra, Dimassi Sarra, Khelifa Hela Ben, Sallem Amira, Kammoun Molka, Abdallah Hamza Hadj, Gribaa Moez, Bignon-Topalovic Joelle, Chelly Sami, Khairi Hédi, Bibi Mohamed, Kacem Maha, Saad Ali, Bashamboo Anu, McElreavey Kenne |
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