Zobrazeno 1 - 10
of 30
pro vyhledávání: '"multiple malformation syndrome"'
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(8)
Warburg-Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro-ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in RAB3GAP1 were the most common cause of WARBM. In this study, we aimed to ev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a957bd51e66040fa152737d5f71056a
https://pubmed.ncbi.nlm.nih.gov/33951304
https://pubmed.ncbi.nlm.nih.gov/33951304
Autor:
Birgitte Forsom Sondal, Zarouhi Hertz, Brenda Diputado, Meritxell Martinez Ferri, Odo Hildenhagen, Aldo Paggi, Gerhard Luef, Jakob Christensen, John Craig, Jana Zárubová, Gordana Kiteva-Trencevska, Raffaele Rocchi, Erik Tauboll, Lisa Gordon, Terttu Heikinheimo-Connell, Uden Navn, Ketevan Khomeriki, Iva Marečková, Erminio Bonizzoni, Michela Cecconi, Lone Rodam, Astrid Carius, Ineke Hogenesch, Katarzyna Miesczanleh, Angelo Labate, Eva Kumlien, Claus Albretsen, Torbjörn Tomson, Chiara Pantaleoni, David Sopelana Garay, Albertina Franza, Imad Halawa, Stefan Juhl, Emilio Perucca, Pia Gellert, Daniela Marino, Aline Russell, E. Kluck, Eylert Brodtkorb, Luigi Maria Specchio, Isabel Pires, Pietro Pignatta, Frank J.E. Vajda, Anette Huuse Farmen, Hans Lindsten, Boštjan Čebular, Maria Paola Canevini, Jens Arentsen, Francesca Faravelli, Bettina Schmitz, Noémi Becser Andersen, Birgit Müffelmann, Petr Bušek, T.-Y. Chang, Alma Sikiric, Judith Osseforth, Elias Zakharia, Elsebeth Bruun Christensen, Gemma Sansa Fayos, Vaiva Petrenaite, Alessandra Pistelli, Eliana Pastor, Hana Krijtová, Tim Hendgen, Leonor Cabral-Lim, Marina Trivisano, Hsiang-Yu Yu, Renata Listonova, Torleiv Svendsen, Vladimír Safcák, Nicoletta Foschi, Kristina Malmgren, Reetta Kälviäinen, Dag Aurlien, Martin J. Brodie, Maria Dolores Castro Vilanova, Anders Nilsson, Jesús Antonio Riuz Gimenez, Christian Samsonsen, Katsuyuki Fukushima, Maria Strandberg, Masaaki Kato, Giovanni De Maria, Katrine Haggag, Anna Maija Saukkonen, Maja Milovanovic, Masahiro Mizobuchi, Peter Mattsson, Bernhard Oehl, Anne Sabers, Juan Luis Becerra Cuñat, Mogens Worm, Antonio Gambardella, Miri Neufeld, Reina Roivainen, Kiyohito Terada, Janne Marit Ertresvåg, Birthe Pedersen, Gisela Rytířová, Claudia Cagnetti, Sanjeev V Thomas, Dick Lindhout, Silvia Kochen, Katherine Turner, Dieter Dennig, Luisa Antonini, Dina Battino, Laura Broglio, Aileen McGonigal, Helena Gauffin, Andrea Ortenzi, Ismael Barzinji, Hideyuki Ohtani, Rasmus Lossius, Elisabeth Robert-Gnansia, Morteza Zarifi-Oskoie, Leif Gjerstad, Barbara Tettenborn, Stephanie Hödl, Martin Kurthen, Barbara Mostacci, Alejandro De Marinis, Natalia Bohorquez Morera, Karl O. Nakken, Yushi Inoue, Germaine Kenou Van Rijckevorssel, Theresa Lasch, Iñigo Garamendi Ruiz, Silje Alvestad, Eugène van Puijenbroek, Anders Lundgren, Elena Zambrelli, Toni Escartin, Bernhard J. Steinhoff, Dominique Flügel
Publikováno v:
Lancet Neurology, 17(6), 530-538. ELSEVIER SCIENCE INC
Christensen, J, Brændgaard, H & EURAP Study Group 2018, ' Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry ', Lancet Neurology, vol. 17, no. 6, pp. 530-538 . https://doi.org/10.1016/S1474-4422(18)30107-8
Epilepsy Currents
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Christensen, J, Brændgaard, H & EURAP Study Group 2018, ' Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry ', Lancet Neurology, vol. 17, no. 6, pp. 530-538 . https://doi.org/10.1016/S1474-4422(18)30107-8
Epilepsy Currents
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Background: Evidence for the comparative teratogenic risk of antiepileptic drugs is insufficient, particularly in relation to the dosage used. Therefore, we aimed to compare the occurrence of major congenital malformations following prenatal exposure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::065767073528c3f34f5392a2c910cf73
https://research.rug.nl/en/publications/e1ac6454-26ab-449f-b9d3-ded61fad6250
https://research.rug.nl/en/publications/e1ac6454-26ab-449f-b9d3-ded61fad6250
Autor:
Mahmut Şamil Sağıroğlu, Tahir Atik, Ozlem Atan Sahin, Esra Isik, Hüseyin Onay, Ferda Ozkinay, Zeliha Gormez, Nergul Corduk
WOS: 000405288400031
PubMed ID: 28407396
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two
PubMed ID: 28407396
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7208e66ca107a916c8d710fcd3f3700
https://hdl.handle.net/11499/23807
https://hdl.handle.net/11499/23807
Publikováno v:
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Introduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::7b673a8b75117ca8ce0d6b0d728a31fd
https://repository.urosario.edu.co/handle/10336/22965
https://repository.urosario.edu.co/handle/10336/22965
The Roberts syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2
Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10652::0bb946ea9d133387d5b656635b374b4a
https://hdl.handle.net/11499/7710
https://hdl.handle.net/11499/7710
The Roberts syndrome: A case report of an infant with valvular aortic stenosis and mutation in ESCO2
Autor:
Dogan, Mustafa, Firinci, Fatih, Balci, Yasemin Isik, Zeybek, Selcan, Ozgurler, Funda, Erdogan, Ilkay, BIRGUL VARAN, Semerci, Cavidan Nur
Publikováno v:
Publons
Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1e439656ed85e2a439646b4b863cf23f
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/7710
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/7710
Publikováno v:
Journal of Pediatric Surgery. 38:E21-E23
DiGeorge Syndrome (DGS) is a congenital disorder that affects the thymus, parathyroid glands, and heart and brain. Thymus involvement in DGS may vary between absence/hypoplasia of thymus to various forms of reduced T cell function. TBX1 deficiency ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e7f967987bed36882d57243d8cb595
https://doi.org/10.1016/s0022-3468(03)00295-1
https://doi.org/10.1016/s0022-3468(03)00295-1
The combination of pulmonary agenesis and anophtalmia or microphthalmia has been described previously. This condition is known as Matthew-Wood syndrome and PDAC syndrome (pulmonary hypoplasia/ agenesis, diaphragmatic hernia/eventration, anophthalmia/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006e0fc865fd5aa9c49c1a354f5e7ba5
http://hdl.handle.net/11452/25998
http://hdl.handle.net/11452/25998
Publikováno v:
East African Medical Journal; Vol 85, No 3 (2008); 145-149
A l0-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13fadb7c1cd2262129cfc2ea786012c3
https://pubmed.ncbi.nlm.nih.gov/18663889
https://pubmed.ncbi.nlm.nih.gov/18663889
A single case of colonic atresia (CA) associated with type A intestinal neuronal dysplasia has been reported in the literature. This article describes a newborn with CA associated with diffuse type B intestinal neuronal dysplasia. A 2-day-old full-te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8df0b59ef1c3cb92045afc8281b7597
https://doi.org/10.1007/bf02877771
https://doi.org/10.1007/bf02877771