A missense mutation in NR5A1 causing female to male sex reversal: A case report

Autor: Anu Bashamboo, Maryam Razzaghy-Azar, Mehdi Totonchi, Ken McElreavey, Mehrshad Seresht-Ahmadi, Mandana Rastari, Masomeh Askari

Publikováno v: Andrologia
Andrologia, 2020, 52 (6), pp.e13585. ⟨10.1111/and.13585⟩

International audience; Testicular disorder of sex development (TDSD) is a rare condition, characterised by a female karyotype, male phenotype, small testes and cryptorchidism. Only a few studies have investigated the genetic causes of male sex rever

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd02d1eb78fc3a1cb135581dbb19167
https://hal-pasteur.archives-ouvertes.fr/pasteur-03521830

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Autor: Abir Ben Haj Ali, Sonia Abdelhak, Ahlem Amouri, S. Makni, Chokri Naouali, Lilia Romdhane, Marwa Sayeb, Wajih Hammami, Hamza Dallali, Olfa Messaoud, Anu Bashamboo, Ken McElreavey

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (7), pp.e00694. ⟨10.1002/mgg3.694⟩
Molecular Genetics & Genomic Medicine, 2019, 7 (7), pp.e00694. ⟨10.1002/mgg3.694⟩
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)

International audience; Background: Several studies have shown a high rate of consanguinity and endogamy in North African populations. As a result, the frequency of autosomal recessive diseases is relatively high in the region with the co-occurrence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d810ebec32a333abd097c4a16201d807
https://hal-pasteur.archives-ouvertes.fr/pasteur-03263632/file/mgg3.694.pdf

Extensive Amplification of Telomeric Repeats in the Karyotypically Highly Diverse African Pygmy Mice

Autor: Victor Colomina, Josette Catalan, Frédéric Veyrunes, Janice Britton-Davidian

Publikováno v: Cytogenetic and Genome Research
Cytogenetic and Genome Research, Karger, 2017, 152 (2), pp.55-64. ⟨10.1159/000478297⟩

Telomeres are ribonucleoprotein structures protecting the physical ends of eukaryotic chromosomes. However, telomeric sequences can also occur at non-terminal regions of chromosomes, forming the so-called interstitial telomeric sequences (ITSs). Some

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3ab5451be9ab1981fd7fe801cf67c4a
https://pubmed.ncbi.nlm.nih.gov/28738367

The genome of the vervet ( Chlorocebus aethiops sabaeus )

Autor: Nicoletta Archidiacono, Jennifer F. Hughes, George M. Weinstock, Yoon Jung, Christopher A. Schmitt, Angela Noll, Nelson B. Freimer, Matthew J. Jorgensen, Jennifer J. Tuscher, Nam Tran, Jason M. Brenchley, David H. O’Connor, Matthew W. Hahn, Eugene Redmond, Alex Nisbett, Roland Zahn, Hannes Svardal, Gary P. Schroth, Raquel García-Pérez, Magnus Nordborg, Nikoleta Juretic, Michael J. Montague, Gregg W.C. Thomas, Michel M. Dione, Julie A. Karl, Anna J. Jasinska, Wesley C. Warren, Jay R. Kaplan, Richard K. Wilson, Patrick Minx, Bronwen Aken, Mariano Rocchi, Colby Chiang, Françoise Thibaud-Nissen, Jessica Wasserscheid, Vasily Ramensky, Oi Wa Choi, Gennady Churakov, Roscoe Stanyon, Yu S. Huang, David Webb, Brian J. Raney, Jörn E. Schmitz, Milinn Kremitzki, Beatrice Jacquelin, Michaela Müller-Trutwin, Juergen Schmitz, Rishi Nag, Tomas Marques-Bonet, LaDeana W. Hillier, Martin Antonio, Tina Graves, Trudy R. Turner, Kim Kyung, Ken Dewar, Chad Tomlinson, Roger W. Wiseman, Oronzo Capozzi

Publikováno v: Genome Research
Genome Research, Cold Spring Harbor Laboratory Press, 2015, 25 (12), pp.1921-1933. ⟨10.1101/gr.192922.115⟩
Digital.CSIC. Repositorio Institucional del CSIC
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Genome Research, 2015, 25 (12), pp.1921-1933. ⟨10.1101/gr.192922.115⟩
Recercat. Dipósit de la Recerca de Catalunya
Genome research, vol 25, iss 12

Warren, Wesley C. et al.
We describe a genome reference of the African green monkey or vervet (Chlorocebus aethiops). This member of the Old World monkey (OWM) superfamily is uniquely valuable for genetic investigations of simian immunodeficienc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32d0aa675f694b3ad60989b91ef45310
https://hal-pasteur.archives-ouvertes.fr/pasteur-01960687/document

Impact de l’analyse chromosomique par puce à ADN (ACPA) sur les représentations maternelles et l’état émotionnel des mères

Autor: Decherf, Margaux

Publikováno v: Gynécologie et obstétrique. 2015

Impact of array comparative genomic hybridization (CGH-array) on maternal representations and emotional status.New techniques of chromosomal analysis by CGH-array, performed after the discovery of anomalies at the foetal ultrasound, have complicated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3133ac69df6ebd3cf3fb91b1d57644bc
https://dumas.ccsd.cnrs.fr/dumas-01191897/file/memoire-esfbaudelocque_decherf.pdf