Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Sarah Duerinckx"'
Autor:
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Background Congenital hydrocephalus is characterized by ventriculomegaly, defined as a dilatation of cerebral ventricles, and thought to be due to impaired cerebrospinal fluid (CSF) homeostasis. Primary congenital hydrocephalus is a subset o
Externí odkaz:
https://doaj.org/article/44a6fec88d5c445daba53c4728eddc7a
Autor:
Annick Massart, Richard Danger, Catharina Olsen, Mary J. Emond, Ondrej Viklicky, Valérie Jacquemin, Julie Soblet, Sarah Duerinckx, Didier Croes, Camille Perazzolo, Petra Hruba, Dorien Daneels, Ben Caljon, Mehmet Sukru Sever, Julio Pascual, Marius Miglinas, the Renal Tolerance Investigators, Isabelle Pirson, Lidia Ghisdal, Guillaume Smits, Magali Giral, Daniel Abramowicz, Marc Abramowicz, Sophie Brouard, Maria Aguilar Rodríguez, Friederike Bachmann, Rajendra Bahadur Shahi, Frederike Bemelman, Luboslav Bena, Luigi Biancone, Laura Braun, Klemens Budde, Alejandro Camargo-Salamanca, Katia Clemente, Hulya Colak, Adrian Covic, Jacques Degreve, Philippe Gatault, François Glowacki, Karine Hadaya, Marc Hazzan, Bénédicte Janbon, Christophe Legendre, Umberto Maggiore, Anja Mühlfeld, Maarten Naesens, Christian Noël, Rainer Oberbauer, Evangeline Pillebout, Gian Benedetto Piredda, Francesco Pisani, Ana Ramírez Puga, Tomas Reischig, Francisco González-Roncero, Søren Schwartz Sørensen, Daniel Seron Micas, Nurhan Seyahi, Dimitrie Siriopol, Goce Spasovski, Jean-François Subra, Erik Teugels, Serhan Tuǧlular, Sonia Van Dooren, Catheline Vilain, Florence Villemain, Xavier Warling, Bruno Watschinger, Laurent Weekers
Publikováno v:
Frontiers in Medicine, Vol 9 (2023)
BackgroundRenal operational tolerance is a rare and beneficial state of prolonged renal allograft function in the absence of immunosuppression. The underlying mechanisms are unknown. We hypothesized that tolerance might be driven by inherited protein
Externí odkaz:
https://doaj.org/article/728d19d9593f48acbfe88073eed48e31
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea
Autor:
Asma Sassi, Julie Désir, Sarah Duerinckx, Julie Soblet, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Anne Delbaere
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Premature ovarian insufficiency (POI) is a heterogeneous clinical syndrome defined by a premature loss of ovarian function that associates menstrual disturbances and hypergonatropic hypogonadism. POI is a major cause of female inf
Externí odkaz:
https://doaj.org/article/cec142e45395453dbb8f68fa1f907a89
Autor:
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods We performed detailed ph
Externí odkaz:
https://doaj.org/article/7feac2e044344c5c91673d23c2f81236
Autor:
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate micr
Externí odkaz:
https://doaj.org/article/c023883a2e1942b999aee670aa32ffb0
Autor:
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Publikováno v:
Clinical Genetics. 103:346-351
Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome." Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal
Autor:
Bettina Blaumeiser, Alec Aeby, Marc Abramowicz, Isabelle Pirson, Cindy Badoer, Helene Verhelst, Kathelijn Keymolen, Berten Ceulemans, Hilde Van Esch, Stéphanie Moortgat, Anne Destree, Patrick Van Bogaert, Sarah Duerinckx, Yusuf Tunca, Valérie Jacquemin, Olivier Vanakker, Nicolas Deconinck, Sarah Weckhuysen, Camille Perazzolo, Marije E.C. Meuwissen, Anna Jansen, Sandrine Passemard, Damien Lederer, Winnie Courtens, Rudy Van Coster, Koenraad Devriendt, Tayeb Sekhara, Nathalie Van der Aa, Isabelle Maystadt, Bart Loeys, Julie Soblet, François-Guillaume Debray, Marie-Cécile Nassogne, Geert Mortier, Julie Désir, Alain Verloes, Catheline Vilain, Jenny Van Den Ende
Publikováno v:
Molecular genetics & genomic medicine
MOLECULAR GENETICS & GENOMIC MEDICINE
Molecular genetics & genomic medicine, Vol. 9, no. 9, p. e1768 [1-19] (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
MOLECULAR GENETICS & GENOMIC MEDICINE
Molecular genetics & genomic medicine, Vol. 9, no. 9, p. e1768 [1-19] (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Background: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods: We performed detailed phenotypi
Autor:
Julie Désir, Catheline Vilain, Sarah Duerinckx, Isabelle Pirson, Olivier Vanakker, Tayeb Sekhara, Bart Loeys, Camille Perazzolo, Marije E.C. Meuwissen, Geert Mortier, Cindy Badoer, Kathelijn Keymolen, Bettina Blaumeiser, Gert Matthijs, Stéphanie Moortgat, Patrick Van Bogaert, Jenneke van den Ende, Yusuf Tunca, Hilde Van Esch, Marc Abramowicz, Julie Soblet, Koen Devriendt, Valérie Jacquemin, Anna Jansen, Sarah Weckhuysen, François-Guillaume Debray, Sandrine Passemard, Damien Lederer, Alain Verloes, Nathalie Van der Aa, Marie-Cécile Nassogne, Helene Verhelst, Alec Aeby, Anne Destree, Winnie Courtens, Isabelle Maystadt, Nicolas Deconinck, Berten Ceulemans, Rudy Van Coster
Primary microcephaly (PM) is defined as a significant reduction in occipito-frontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. We performed detailed phenotypic and genomic analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99302e99feb13953d057e9d71b4115c3
https://doi.org/10.22541/au.160978661.19941555/v1
https://doi.org/10.22541/au.160978661.19941555/v1
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:
Cindy Badoer, Alain Verloes, Valérie Jacquemin, Camille Perazzolo, Marc Abramowicz, Judith Racapé, Isabelle Pirson, Marianne Rooman, Tom Lenaerts, Julie Soblet, Séverine Drunat, Sabine Costagliola, Frédérick Libert, Anne Lefort, Sarah Duerinckx, Sandrine Passemard, Laurence Desmyter, Viviane De Maertelaer, Yoann Vial, Annick Massart, Sofia Papadimitriou, Yann-Aël Le Borgne
Publikováno v:
Human mutation, vol. 41, no. 2, pp. 512-524
Human Mutation
Human Mutation
Primary microcephaly (PM) is characterized by a small head since birth and is vastly heterogeneous both genetically and phenotypically. While most cases are monogenic, genetic interactions between Aspm and Wdr62 have recently been described in a mous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bd2f99e495b801ed62fbc262d8c6823
https://serval.unil.ch/resource/serval:BIB_D620C1C3B2CE.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_D620C1C3B2CE.P001/REF.pdf