Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Orly Elpeleg"'
Autor:
null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1
https://doi.org/10.1111/cge.14071/v2/response1
Autor:
Ehud Even-Or, Adeeb NaserEddin, Hagar Mor-Shaked, Polina Stepensky, Gali Schiesel, Natalia Simanovsky, Irina Zaidman, Orly Elpeleg
Publikováno v:
Bone. 154
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. This rare genetic syndrome usually presents soon after birth and is often fatal if left untreated. Early diagnosis is key for proper management but cli
Autor:
Gijs W. E. Santen, Damara Ortiz, Elisabeth M. Lodder, Francesca Clementina Radio, Michael V. Airola, Monique C. Haak, Dominic S Zimmerman, Quinn Gunst, Peter de Knijff, Katherine H. Kim, Viktor Stránecký, Stanislav Kmoch, Hiba Mustafa, Dmitriy Niyazov, H. Alex Brown, Najim Lahrouchi, Jamille Y. Robinson, Rick H. de Leeuw, Anne Sophie Denommé-Pichon, Sara Cherny, George A. Tanteles, Mariam Hababa, Joey V. Barnett, Doris Škorić-Milosavljević, Annemiek C. Dutman, Timothy J. Moss, Daniel M. de Laughter, Connie R. Bezzina, Zeev Perles, Fleur V.Y. Tjong, Matthew Ambrose, Forrest Z. Bowling, Arend D. J. ten Harkel, Katelijne Bouman, Barry Wolf, Monia Magliozzi, Asaf Ta-Shma, Lenka Piherová, Aho Ilgun, Sabrina C. Burn, Orly Elpeleg, Michael A. Frohman, Alex V. Postma, Maurice J.B. van den Hoff, Christian M. Salazar, Johanna C. Herkert, Christine Francannet, Jennifer Jacober, Andreas Rousounides, Leander Beekman, Barbara J.M. Mulder, Viktor Tomek, Bruel Ange-Line, Aphrodite Aristidou-Kallika, S. A. Clur, Gwendolyn T. R. Manten
Publikováno v:
CLIN Journal, 131(5):142148. AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Journal of clinical investigation, 131(5):e142148. The American Society for Clinical Investigation
J Clin Invest
Journal of Clinical Investigation, 131(5). AMER SOC CLINICAL INVESTIGATION INC
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a search in GeneMatcher, we identified 30 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef92ee7a5ecfb1bc070dbd1d6f217fa
https://hdl.handle.net/1887/3213006
https://hdl.handle.net/1887/3213006
Autor:
Hagar Mor-Shaked, Shiri Gershon Naamat, Orly Elpeleg, Vardiella Meiner, Tamar Harel, Avichai Reich, Jonathan Rips
Publikováno v:
Eur J Hum Genet
Consanguinity, commonplace in many regions around the globe, is associated with an increased risk of autosomal recessive (AR) genetic disorders. Consequently, consanguineous couples undergoing preimplantation genetic diagnosis (PGD) for one Mendelian
Autor:
Sebastian Fuchs, Oded Shamriz, Bella Shadur, Polina Stepensky, Orly Elpeleg, Raz Somech, Klaus Warnatz, Caroline von Spee-Mayer, Vered Molho Pessach, Adeeb NaserEddin, Sara Amro, Nisreen Rumman, Baerbel Keller, Omar Abuzaitoun, David Friedmann, Stephan Ehl, Susanne Unger
Publikováno v:
Journal of Clinical Immunology. 38:527-536
All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of
Autor:
Orly Elpeleg, Abu Rmeileh Ayman, Vered Molho-Pessach, Abraham Zlotogorski, Yaron Ilan, Tawfik Khoury, Neville Berkman, Yuval Ramot
Publikováno v:
Clinical Therapeutics. 39:444-449
Purpose Signal transducer and activator of transcription 3 is a member of a family of proteins involved in the regulation of inflammation, differentiation, proliferation, and survival of cells. Here we describe a 38-year-old male who has experienced
Publikováno v:
American Journal of Medical Genetics Part A. 173:491-494
There is a significant level of genetic heterogeneity underlying the phenotype of nonspecific hypotonia with severe intellectual disability. Exome sequencing has proven to be a powerful tool for identifying the underlying molecular basis of such nons
Autor:
Michael S. Hershfield, Yackov Berkun, Tal Ben-Ami, Orly Elpeleg, Michael Weintraub, Polina Stepensky, Shoshana Revel-Vilk, Susan J. Kelly, Nancy J. Ganson, Rebecca Brooks, Shlomit Kfir-Erenfeld, Avraham Shaag
Publikováno v:
The Journal of Pediatrics. 177:316-320
Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with
Autor:
Klaus-Michael Debatin, Ingrid Furlan, Orly Elpeleg, Donald Bunjes, Meinrad Beer, Catharina Schuetz, Stephanie von Harsdorf, Batia Avni, Sigal Grisariu, Polina Stepensky, Bella Shadur, Ansgar Schulz, Irina Zaidman, Manfred Hoenig, Mehtap Sirin
Osteopetrosis (OP) is a rare disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment available in the infantile “malignant” form of OP. Improved clinical an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4833fa953f1355081b779ead2182f1
https://europepmc.org/articles/PMC6436016/
https://europepmc.org/articles/PMC6436016/
Autor:
Rune Busk Damgaard, Kirby N. Swatek, Orly Elpeleg, Polina Stepensky, Eamonn R. Maher, Paul R. Elliott, David Komander, Yackov Berkun
Publikováno v:
EMBO Molecular Medicine
EMBO MOLECULAR MEDICINE
EMBO Molecular Medicine, Vol 11, Iss 3, Pp n/a-n/a (2019)
EMBO MOLECULAR MEDICINE
EMBO Molecular Medicine, Vol 11, Iss 3, Pp n/a-n/a (2019)
The deubiquitinase OTULIN removes methionine‐1 (M1)‐linked polyubiquitin signals conjugated by the linear ubiquitin chain assembly complex (LUBAC) and is critical for preventing TNF‐driven inflammation in OTULIN‐related autoinflammatory syndr