Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Valérie, Segers"'
Autor:
Andrei Leucă, Pieter Demetter, Amélie Boulay, Katherina Vanden Houte, Valérie Segers, Laurine Verset
Publikováno v:
Case Reports in Pathology, Vol 2022 (2022)
Ectopic liver tissue represents a rare entity and is mostly attributed to events occurring during embryogenesis. Previous case reports documented the presence of fetal liver parenchyma within temporarily developed organs during pregnancy, such as the
Externí odkaz:
https://doaj.org/article/c78b4c7d63e244638a1a5354a293d47a
Publikováno v:
Skeletal Radiology. 52:1399-1401
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11f9f314539570a15a2e6d2221631846
https://doi.org/10.1007/s00256-023-04314-7
https://doi.org/10.1007/s00256-023-04314-7
Publikováno v:
Skeletal Radiology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8851e781595d901fdd8f563c45a16f9b
https://doi.org/10.1007/s00256-023-04315-6
https://doi.org/10.1007/s00256-023-04315-6
Publikováno v:
Skeletal radiology
Two brothers, completely asymptomatic until their first year of life, started to complain from gingival hypertrophy, progressive development of painful soft tissue masses on the fingers and toes, on the face and on the scalp. There were no neurologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc764e2b5f470175fe01cd68a1d14f8b
https://doi.org/10.1007/s00256-021-03898-2
https://doi.org/10.1007/s00256-021-03898-2
Publikováno v:
Case Reports in Pediatrics, Vol 2017 (2017)
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacu
Externí odkaz:
https://doaj.org/article/f8f7411a1ba049fa9c1afb280c95cbe2
Autor:
Caroline Gounongbe, An Vercoutere, Boyan Dimitrov, Marie Laterre, Ephraim Freddy Avni, Isabelle Vandernoot, Julie Désir, Bettina Blaumeiser, Guillaume Smits, Cecile Regnard, Dominique Thomas, Catherine Donner, Kim Van Berkel, Dominique D'Onle, Lionel Van Maldergem, Laureen Rocq, Jean Makhoul, Catheline Vilain, Martina Marangoni, Jamil Soto, Caroline De Coninck, Giulia Garofalo, Anne Massez, Marie-Lucie Racu, Kathelijn Keymolen, Gilles Ceysens, Robert Coulon, Christian Dugauquier, Caroline Daelemans, Anne Holoye, Marie Cassart, Guillaume Debray, Stephanie Romée, Michel Van Rysselberge, Meriem Guizani, Laura Tecco, Valérie Segers, Thomy De Ravel, Elise Brischoux-Boucher, Sara Derisbourg, Isabelle Migeotte, Catherine Houba, Elena Costa, Siham Zaytouni, Sandra Janssens, Kalina Gajewska, Camille Verocq, Christian Norgaard, Nicky D'Haene, Marc Abramowicz, Saskia Bulk, Aurore Stagel-Trabbia, Sarah Bouri
Publikováno v:
Genetics in medicine
Obstetrical and gynecological survey
Obstetrical and gynecological survey
Purpose: We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic effi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca28fc8b947c083820e568fc2931bc01
Autor:
Susan C. Shelmerdine, C. Hutchinson, Neil J. Sebire, Jacques Jani, Ivan Hurtado, U. Mandalia, Elisa Bevilacqua, T. Cos Sanchez, Valérie Segers, Xin Kang, Mieke Cannie, Angela Carlin, Owen J. Arthurs
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 53:229-238
OBJECTIVE: To assess the diagnostic accuracy of postmortem ultrasound performed by operators blinded to prenatal findings and to invasive autopsy results in fetuses at different gestational ages and to investigate the effect of various parameters on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c9bdf8b520e98fd31fccab89c24a19a
https://doi.org/10.1002/uog.18828
https://doi.org/10.1002/uog.18828
Autor:
Valérie Jacquemin, Valérie Segers, Marc Abramowicz, Annick Massart, Sarah Duerinckx, Isabelle Pirson, Camille Perazzolo, Dominique Thomas, Mathieu Antoine, Julie Désir, Marie Cassart, Sophie Lecomte
Publikováno v:
Human molecular genetics
Congenital hydrocephalus is a potentially devastating, highly heterogeneous condition whose genetic subset remains incompletely known. We here report a consanguineous family where three fetuses presented with brain ventriculomegaly and limb contractu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d41d145959e3b6f82a2fb85e0a46df8
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/317061
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/317061
Autor:
Cécile Brachet, Xavier Delforge, Claudine Heinrichs, Nasroola Damry, Karim Khelif, Stephane Luyckx, Valérie Segers
Publikováno v:
Journal of pediatric urology. 16(6)
Ovotesticular disorder of sex development (OTD) management remains challenging. In OTD, cautious gonadal evaluation and separation of ovarian and testicular components might be required to avoid virilization of a patient with female identity. Herein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::716245a173f5ec28ca2f5c80014b0c58
https://pubmed.ncbi.nlm.nih.gov/33268315
https://pubmed.ncbi.nlm.nih.gov/33268315
Autor:
Caterina De Luca, Jacques Jani, Dominique A. Badr, Teresa Cos Sanchez, Valérie Segers, Kathelijn Keymolen, Elisa Bevilacqua, Mieke Cannie
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. The diagnostic criteria of HHT, or Curacao criteria, include the following: recurrent epistaxis or nighttime nose bleeding, mucocutaneous telangiectases, visceral arter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ebd412f291f87f8ed80a99cd9a086a
https://doi.org/10.1002/ajmg.a.61535
https://doi.org/10.1002/ajmg.a.61535