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Results for
""Gonadal Dysgenesis""[mesh_terms]

13 Results

Searching titles within these results

DHX37 and 46,XY DSD: A New Ribosomopathy?

Kenneth McElreavey, Eric Pailhoux, Anu Bashamboo

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2022;16(2-3):194-206

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Hypoestrogenism in young women and its influence on bone mass density.

Agnieszka Podfigurna-Stopa, Blazej Meczekalski, Andrea Riccardo Genazzani

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2010;26(9):652-7

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Is human fecundity declining?

Niels E Skakkebaek, Niels Jørgensen, Katharina M Main, Ewa Rajpert-De Meyts, Henrik Leffers, Anna-Maria Andersson, Anders Juul, Elisabeth Carlsen, Gerda Krog Mortensen, Tina Kold Jensen, Jorma Toppari

International journal of andrology 2006;29(1):2-11

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Ethnic differences in occurrence of TDS-- genetics and/or environment?

Yvonne Lundberg Giwercman, Lars Hagmar, Lars Rylander, Aleksander Giwercman

International journal of andrology 2006;29(1):291-7; discussion 304-6

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Biology and epidemiology of testicular dysgenesis syndrome.

C Asklund, N Jørgensen, T Kold Jensen, N E Skakkebaek

BJU international 2004;93 Suppl 3():6-11

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Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Marta Ciaccio, Mariana Costanzo, Gabriela Guercio, Valeria De Dona, Roxana Marino, Pablo C Ramirez, Jessica Galeano, Diana Monica Warman, Esperanza Berensztein, Nora Saraco, Maria Sonia Baquedano, Eduardo Chaler, Mercedes Maceiras, Juan Manuel Lazzatti, Marco A Rivarola, Alicia Belgorosky

Hormone research in paediatrics 2013;78(2):119-26

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Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.

Varinderpal S Dhillon, Zahid Hussain, Juan F Masa, Mohd Aslam, Mohd Raish, Arif Ahmad, Nida Jamil Khan, Sudha Prasad, Swaraj Batra, Syed T Pasha, Syed Akhtar Husain, Mohd Shahid

Fertility and sterility 2008;90(4):1199.e1-8

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Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

S Faghri, D Tamura, K H Kraemer, J J Digiovanna

Journal of medical genetics 2008;45(10):609-21

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LARS2-Perrault syndrome: a new case report and literature review.

Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand, Ariane Paoloni-Giacobino

BMC medical genetics 2020;21(1):109

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46,XY DSD due to impaired androgen production.

Berenice B Mendonca, Elaine M F Costa, Alicia Belgorosky, Marco Aurelio Rivarola, Sorahia Domenice

Best practice & research. Clinical endocrinology & metabolism 2010;24(2):243-62

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Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.

Cui Li, Mei Xue, Xiang Wang, Minggang Zhao, Fang He, Xu Li

Gene 2019;718():144072

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Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński

Journal of translational medicine 2017;15(1):25

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Transcription factor AP-2gamma is a developmentally regulated marker of testicular carcinoma in situ and germ cell tumors.

Christina E Hoei-Hansen, John E Nielsen, Kristian Almstrup, Si Brask Sonne, Niels Graem, Niels E Skakkebaek, Henrik Leffers, Ewa Rajpert-De Meyts

Clinical cancer research : an official journal of the American Association for Cancer Research 2005;10(24):8521-30

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Results: 1 – 13 / 13

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Results for ""Gonadal Dysgenesis""[mesh_terms]

DHX37 and 46,XY DSD: A New Ribosomopathy?

Hypoestrogenism in young women and its influence on bone mass density.

Is human fecundity declining?

Ethnic differences in occurrence of TDS-- genetics and/or environment?

Biology and epidemiology of testicular dysgenesis syndrome.

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.

Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

LARS2-Perrault syndrome: a new case report and literature review.

46,XY DSD due to impaired androgen production.

Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

Transcription factor AP-2gamma is a developmentally regulated marker of testicular carcinoma in situ and germ cell tumors.

Results for
""Gonadal Dysgenesis""[mesh_terms]