Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Ziva Ben-Neriah"'
Autor:
Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphol
Externí odkaz:
https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f0181
Autor:
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological
Externí odkaz:
https://doaj.org/article/d24638f2efce49c3b8ea400cc414438d
Autor:
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.
Externí odkaz:
https://doaj.org/article/9deb62b3cdbb447d9597c9b55e926986
Autor:
Michael Assa, Fadia Zagairy, Ronen Spiegel, Orly Elpeleg, Ziva Ben Neriah, Nitzan Biran, Amnon Harel, Boris Fichtman, Avraham Shaag, Elena Chervinsky, Yiftah Barsheshet
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Nature Communications
Nature Communications
Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af6c4872854e888e8de4e827c0ab22a
http://link.springer.com/article/10.1038/s41467-019-08493-7
http://link.springer.com/article/10.1038/s41467-019-08493-7
Autor:
Sandrine Caburet, Petra Zavadakova, Ziva Ben-Neriah, Kamal Bouhali, Aurélie Dipietromaria, Céline Charon, Céline Besse, Paul Laissue, Vered Chalifa-Caspi, Sophie Christin-Maitre, Daniel Vaiman, Giovanni Levi, Reiner A Veitia, Marc Fellous
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33412 (2012)
BACKGROUND: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Alt
Externí odkaz:
https://doaj.org/article/06c5913e0dc14403ac36ee9c837b2c4d
Autor:
Yaping Yang, Sarah H. Elsea, Orly Elpeleg, Donna M. Muzny, Vinod Varghese, Hanoch Cassuto, Mohnish Suri, Sue Holder, AK Lampe, Weimin Bi, Wenmiao Zhu, Muriel Holder-Espinasse, Shane McKee, Christine M. Eng, Lihadh Al-Gazali, Vardiella Meiner, Aisha Al Shamsi, Kim L. McBride, Melissa Lees, June Anne Gold, Janet S. Soul, Soo Mi Park, Birgitta Bernhard, Sonal Mahida, Klaas J. Wierenga, Daryl A. Scott, Elizabeth Roeder, Kimberly Nugent, Vivienne McConnell, Jill M. Harris, Ed Blair, J. Lloyd Holder, Makanko Komara, Seema R. Lalani, Brett H. Graham, Andrea M. Lewis, Jill A. Rosenfeld, Ziva Ben-Neriah, Elizabeth A. Fanning, Richard A. Gibbs, Pengfei Liu, Lionel Van Maldergem, Fan Xia, Ludmila Matyakhina, James B. Gibson, Victoria Harrison, Julie Vogt, Francesco Vetrini, Rebecca O. Littlejohn, James R. Lupski, Ajith Kumar, Jennifer E. Posey, Margaret Marlatt, Joseph T. Alaimo, Matthew Pastore, Laurie H. Seaver, Lindsay C. Burrage
Publikováno v:
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5169f87f1db2dfe5b8b3d0259aa069b
https://doi.org/10.1186/s13073-019-0623-0
https://doi.org/10.1186/s13073-019-0623-0
Autor:
Kim L. McBride, Soo Mi Park, Richard A. Gibbs, Shane McKee, Melissa Lees, Wenmiao Zhu, Yaping Yang, Jill A. Rosenfeld, Vardiella Meiner, Elizabeth A. Fanning, Victoria Harrison, Lihadh Al-Gazali, Anne K. Lampe, Ed Blair, Sue Holder, Klaas J. Wierenga, Ajith Kuttannair Kumar, Fan Xia, Sarah H. Elsea, Andrea M. Lewis, Vivienne McConnell, Birgitta Bernhard, Orly Elpeleg, Mohnish Suri, Elizabeth Roeder, Lionel Van Maldergem, J. Lloyd Holder, Muriel Holder-Espinasse, Rebecca O. Littlejohn, Sonal Mahida, Aisha Al Shamsi, June Anne Gold, Joseph T. Alaimo, Ziva Ben-Neriah, Jennifer E. Posey, Vinod Varghese, Julie Vogt, Donna M. Muzny, Makanko Komara, Christine M. Eng, Daryl A. Scott, Francesco Vetrini, Brett H. Graham, Seema R. Lalani, Kimberly Nugent, Hanoch Cassuto, Weimin Bi, Jill M. Harris, Pengfei Liu, Matthew Pastore, Ludmila Matyakhina, James B. Gibson, James R. Lupski, Margaret Marlatt, Laurie H. Seaver, Lindsay C. Burrage, Janet S. Soul
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
Genome Medicine
Genome Medicine
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d637f385c5e054dcd202278fdc910304
http://link.springer.com/article/10.1186/s13073-019-0630-1
http://link.springer.com/article/10.1186/s13073-019-0630-1
Autor:
Michael Weintraub, Karen Meir, Shoshana Revel-Vilk, Natalia Simanovsky, Milton J. Finegold, Eitan Rom-Gross, Iris Fried, Orit Pappo, Ziva Ben-Neriah
Publikováno v:
Pediatric and Developmental Pathology. 18:251-256
Teratomas of the liver are exceedingly rare. Neuroblastoma is the most common, extracranial solid tumor of infancy. We describe the case of a 2-month-old, female infant who presented with an abdominal mass arising in the right lobe of the liver, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07ee4090b67cee94289db097f603491
https://doi.org/10.2350/13-08-1361-cr.1
https://doi.org/10.2350/13-08-1361-cr.1
Autor:
Adva Yeheskel, Nurit Magal, Ayelet Halevy, Adi Har-Zahav, Iris Noyman, Ziva Ben Neriah, Idit Maya, Efrat Birk, Lina Basel-Vanagaite, Gideon Rechavi, Metsada Pasmanik-Chor, Amos J. Simon, Gal Maydan, Rachel Straussberg, Mordechai Shohat, Adi Albin-Kaplanski
Publikováno v:
Journal of Medical Genetics. 48:383-389
Background This study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e2252c93b36f9596e1cb0a122b792a6
https://doi.org/10.1136/jmg.2010.087114
https://doi.org/10.1136/jmg.2010.087114
Autor:
Ziva Ben-Neriah, Raoul C.M. Hennekam, Joris A. Veltman, James D. Lindsey, Sara A. Courtneidge, Hans van Bokhoven, Yasemin Alanay, Ben C.J. Hamel, Mariangela Amenduni, Pilar Cejudo-Martin, Ellen van Beusekom, José Luis Millán, Beate Albrecht, André Mégarbané, Astrid R. Oudakker, Arjan P.M. de Brouwer, Bert van der Zwaag, Zafar Iqbal, Robert N. Weinreb, Pilar Ruiz-Lozano, Rosangela Artuso, M. Cecilia Scimia
Publikováno v:
American Journal of Human Genetics, 86, 2, pp. 254-61
American Journal of Human Genetics, 86, 254-61
American journal of human genetics, 86(2), 254-261. Cell Press
American Journal of Human Genetics, 86, 254-61
American journal of human genetics, 86(2), 254-261. Cell Press
Contains fulltext : 88891.pdf (Publisher’s version ) (Closed access) Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as incre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0bbd67a3ecffccd4b6169adc251107
https://doi.org/10.1016/j.ajhg.2010.01.009
https://doi.org/10.1016/j.ajhg.2010.01.009