نتائج البحث - "MAITZ, SILVIA"

1

دورية أكاديمية

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

المؤلفون: Stegmann, Jil D, Kalanithy, Jeshurun C, Dworschak, Gabriel C, Ishorst, Nina, Mingardo, Enrico, Lopes, Filipa M, Ho, Yee Mang, Grote, Phillip, Lindenberg, Tobias T, Yilmaz, Öznur, Channab, Khadija, Seltzsam, Steve, Shril, Shirlee, Hildebrandt, Friedhelm, Boschann, Felix, Heinen, André, Jolly, Angad, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Capra, Valeria, Accogli, Andrea, Maitz, Silvia, Spano, Alice, Olson, Rory J, Klee, Eric W, Lanpher, Brendan C, Jang, Se Song, Chae, Jong-Hee, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R, Vodopiutz, Julia, Vogel, Ida, Blechingberg, Jenny, Cohen, Jennifer L, Riley, Kacie, Klee, Victoria, Walsh, Laurence E, Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stuurman, Kyra, van Slegtenhorst, Marjon

المصدر: Stegmann , J D , Kalanithy , J C , Dworschak , G C , TUDP consortium , Ishorst , N , Mingardo , E , Lopes , F M , Ho , Y M , Grote , P , Lindenberg , T T , Yilmaz , Ö , Channab , K , Seltzsam , S , Shril , S , Hildebrandt , F , Boschann , F , Heinen , A , Jolly , A , Myers , K , McBride , K , Bekheirnia , M R , Bekheirnia , N , Scala , M , Morleo ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14Test

الإتاحة: https://doi.org/10.1038/s41525-024-00398-9Test
https://pure.eur.nl/en/publications/9da6fe48-84bb-49b0-9137-de45838f8c14Test
https://pure.eur.nl/ws/files/137962317/s41525-024-00398-9.pdfTest
http://www.scopus.com/inward/record.url?scp=85186632646&partnerID=8YFLogxKTest

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2

دورية أكاديمية

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

المؤلفون: Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert BA, Vissers, Lisenka ELM, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, CAUSES Study, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen EH, van Gassen, Koen LI, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, SPARK Consortium, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

المصدر: Genome medicine. 13(1)

مصطلحات موضوعية: CAUSES Study, SPARK Consortium, Cortex development, Gene families, Neurodevelopmental disorders, hnRNPs, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9ff2t46dTest

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3

دورية أكاديمية

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.

المؤلفون: Morhart, Patrick, Faschingbauer, Florian, Grange, Dorothy, Clarke, Angus, Bodemer, Christine, Maitz, Silvia, Huttner, Kenneth, Kirby, Neil, Durand, Caroline, Schneider, Holm, Körber, Iris, Klein, Ophir

المصدر: British Journal of Clinical Pharmacology. 86(10)

مصطلحات موضوعية: drug safety, ectodermal dysplasia, ectodysplasin A, immunogenicity, prenatal therapy, protein replacement, Adult, Animals, Ectodysplasins, Female, Humans, Immunoglobulin Fc Fragments, Infant, Infant, Newborn, Male, Pregnancy, Recombinant Fusion Proteins, Research Subjects

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9m31z4skTest

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4

دورية أكاديمية

Safety and immunogenicity of Fc‐EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects

المؤلفون: Körber, Iris, Klein, Ophir D, Morhart, Patrick, Faschingbauer, Florian, Grange, Dorothy K, Clarke, Angus, Bodemer, Christine, Maitz, Silvia, Huttner, Kenneth, Kirby, Neil, Durand, Caroline, Schneider, Holm

المصدر: British Journal of Clinical Pharmacology. 86(10)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/08m7k377Test

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5

دورية أكاديمية

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

المصدر: Peluso, Francesca; Caraffi, Stefano Giuseppe; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Weller Grønborg, Sabine; Hammer, Trine; Iughetti, Lorenzo; et al (2023). Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature. Journal of Medical Genetics, 60(12):1224-1234.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics, Congenital, Hereditary, Neonatal Diseases, Neonatal Abnormalities, Genetic Research, Pathological Conditions, Pathological Signs, Pathological Symptoms, Patient Care, Radiology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/235671/1/ZORA_jmg_2023_109141_full.pdfTest; info:pmid/37586838; urn:issn:0022-2593

الإتاحة: https://doi.org/10.5167/uzh-23567110.1136/jmg-2023-109141Test
https://www.zora.uzh.ch/id/eprint/235671Test/
https://www.zora.uzh.ch/id/eprint/235671/1/ZORA_jmg_2023_109141_full.pdfTest

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6

دورية أكاديمية

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome:a study of 53 patients and review of the literature

المؤلفون: Peluso, Francesca, Caraffi, Stefano G, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T, Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Grønborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Kleefstra, Tjitske, Koolen, David A, Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F, Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Novelli, Antonio, Ockeloen, Charlotte W, Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P, Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T, Garavelli, Livia

المصدر: Peluso , F , Caraffi , S G , Contrò , G , Valeri , L , Napoli , M , Carboni , G , Seth , A , Zuntini , R , Coccia , E , Astrea , G , Bisgaard , A-M , Ivanovski , I , Maitz , S , Brischoux-Boucher , E , Carter , M T , Dentici , M L , Devriendt , K , Bellini , M , Digilio , M C , Doja , A , Dyment , D A , Farholt , S , Ferreira , C R , Wolfe ....

مصطلحات موضوعية: Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Research, Pathological Conditions, Signs and Symptoms, Patient Care, Radiology

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/8af1c7c8-f710-4e0b-a8b9-0d0306e8f640Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109141Test
https://cris.maastrichtuniversity.nl/en/publications/8af1c7c8-f710-4e0b-a8b9-0d0306e8f640Test

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7

دورية أكاديمية

Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study

المساهمون: Regione Lombardia

المصدر: Molecular Genetics & Genomic Medicine ; volume 12, issue 1 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.2316Test

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8

دورية أكاديمية

P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

المؤلفون: Boone, Philip, Faour, Kamli, Mohajeri, Kiana, Lemanski, John, Jana, Bimal, Fu, Jack, Kerkhof, Jennifer, McConkey, Haley, Collins, Ryan, Lucente, Diane, de Esch, Celine, Moysés-Oliveira, Mariana, Nuttle, Alexander, Domingo, Aloysius, Erdin, Serkan, Hanley, Maris, Watt, Amy, Surette, Eric, Lima, Gloria, Smith, Laura, Salani, Monica, Yadav, Rachita, Harripaul, Ricardo, O’Keefe, Kathryn, Burt, Nicholas, Larson, Matthew, Bhavsar, Riya, Currall, Benjamin, Sell, Susan, Ladda, Roger, Immken, LaDonna, Buchanan, Catherine, Yuan, Bo, Lynch, Sally, Gilissen, Christian, Pfundt, Rolph, Ockeloen, Charlotte, Kleefstra, Tjitske, Vanhoutte, Els, Sinnema, Margje, Stegmann, Sander, Stevens, Servi, Iascone, Maria, Maitz, Silvia, Cogne, Benjamin, Le Caignec, Cedric, Vincent, Marie, Nizon, Mathilde, Male, Alison, Agrawal, Pankaj

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100188 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100188Test
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423001887?httpAccept=text/plainTest

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9

دورية أكاديمية

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100295 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100295Test
https://api.elsevier.com/content/article/PII:S2949774423002959?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423002959?httpAccept=text/plainTest

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10

دورية أكاديمية

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism

المساهمون: Niceta, Marcello, Ciolfi, Andrea, Ferilli, Marco, Pedace, Lucia, Cappelletti, Camilla, Nardini, Claudia, Hildonen, Mathi, Chiriatti, Luigi, Miele, Evelina, Dentici, Maria Lisa, Gnazzo, Maria, Cesario, Claudia, Pisaneschi, Elisa, Baban, Anwar, Novelli, Antonio, Maitz, Silvia, Selicorni, Angelo, Squeo, Gabriella Maria, Merla, Giuseppe, Dallapiccola, Bruno, Tumer, Zeynep, Digilio, Maria Cristina, Priolo, Manuela, Tartaglia, Marco

العلاقة: journal:EUROPEAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11588/957939Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188530138

الإتاحة: https://doi.org/10.1038/s41431-024-01597-9Test
https://hdl.handle.net/11588/957939Test

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