Expanding the phenotypic spectrum of ARCN1-related syndrome

Autor: Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi

Publikováno v: Genet Med

PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/

P–116 A 9-year monocentric retrospective analysis of glutaraldehyde-fixed and semithin section of testicular biopsies and TESE in azoospermic patients

Autor: M Teletin, L Ladureau-Fritsch, J B Durand, Olivier Pirrello, M Cesbron, K. Bettahar, C Saussine, Jeanine Ohl, M Mark, I Lichtblau, C Greze, C. Rongieres, F Schmitt

Publikováno v: Human Reproduction. 36

Study question What is the outcome of testicular sperm extraction (TESE) after microinjection of frozen–thawed sperm and the correlation with histological analysis in azoospermic patients? Summary answer In our cohort of 240 azoospermic patients, s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2447c7372090229a2fcb5bded7b60e2a
https://doi.org/10.1093/humrep/deab130.115

Pregnancy outcome in Turner syndrome: A French multi-center study after the 2009 guidelines

Autor: Sylvie Hieronimus, Aline Papaxanthos, Hélène Letur, Céline Pimentel, Céline Chauleur, Norbert Winer, Jean Parinaud, Catherine Pienkowski, Loïc Sentilhes, Jeanine Ohl, Florence Cadoret, Sophie Catteau-Jonard, Olivier Parant, Emmanuelle Mathieu d'Argent, Célia Bettiol, Maela Le Lous, Julien Chevreau, Nathalie Fontaine, Florence Biquard

Publikováno v: European Journal of Obstetrics & Gynecology and Reproductive Biology
European Journal of Obstetrics & Gynecology and Reproductive Biology, Elsevier, 2018, 229, pp.20-25. ⟨10.1016/j.ejogrb.2018.08.005⟩

This study aimed to assess the application of the French guidelines for pregnancies in Turner syndrome (TS) and their impact on perinatal prognosis.We performed a French multi-center retrospective study (14 centers), including TS pregnant patients (s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0738c003123bf833ce3ffddf0006e7cc
https://doi.org/10.1016/j.ejogrb.2018.08.005

Luteal phase progesterone supplementation following induced natural cycle frozen embryo transfer: A retrospective cohort study

Autor: Laure Bernard, Emilie Schwartz, C. Rongieres, Jeanine Ohl, K. Bettahar, Isabelle Lichtblau, Olivier Pirrello

Publikováno v: Journal of gynecology obstetrics and human reproduction. 48(2)

Introduction The objective of this study was to assess the impact on the clinical pregnancy rate of luteal phase progesterone treatment in patients being prepared for natural cycle frozen embryo transfer (FET) with induced ovulation. Material and met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ba568ca31fefe877dc2dab1987ef19
https://pubmed.ncbi.nlm.nih.gov/30347257

Materno-Fetal Cardiovascular Complications in Turner Syndrome after Oocyte Donation: Insufficient Prepregnancy Screening and Pregnancy Follow-Up Are Associated with Poor Outcome

Autor: Dominique Cornet, Hélène Letur, Jeanine Ohl, Sophie Catteau-Jonard, Aline Papaxanthos-Roche, Dominique Lelannou, Nicolas Chevalier, Thérèse Greck-Chassain, Marie-Laure Couet, Jean-Luc Pouly, Patrick Fénichel, Marie-Christine Dulucq, Isabelle Cédrin-Durnerin, Cécile Chalas-Boissonnas, René Frydman

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 96:E260-E267

Recombinant human GH treatment and oocyte donation (OD) have improved the quality of life in women with Turner syndrome (TS). However, life expectancy is reduced, mainly due to cardiovascular complications. Pregnancy may itself increase that risk and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600a81d03382bc18c068cf2336a17d98
https://doi.org/10.1210/jc.2010-0925