Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Pratibha, Bhai"'
Autor:
Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100337- (2024)
Externí odkaz:
https://doaj.org/article/517d9e08a39d40259779aac3fa7232af
Autor:
Shamim Mortuza, Benjamin Chin-Yee, Tyler E. James, Ian H. Chin-Yee, Benjamin D. Hedley, Jenny M. Ho, Lalit Saini, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Jonathan Keow, Nikhil Sangle, Cyrus C. Hsia
Publikováno v:
Current Oncology, Vol 31, Iss 4, Pp 1762-1773 (2024)
Myelodysplastic neoplasms (MDS) with ring sideroblasts (RS) are diagnosed via bone marrow aspiration in the presence of either (i) ≥15% RS or (ii) 5–14% RS and an SF3B1 mutation. In the MEDALIST trial and in an interim analysis of the COMMANDS tr
Externí odkaz:
https://doaj.org/article/1389c9740fa14069b7cf278763e6f132
Autor:
Liselot van der Laan, Ananília Silva, Lotte Kleinendorst, Kathleen Rooney, Sadegheh Haghshenas, Peter Lauffer, Yasemin Alanay, Pratibha Bhai, Alfredo Brusco, Sonja de Munnik, Bert B.A. de Vries, Angelica Delgado Vega, Marc Engelen, Johanna C. Herkert, Ron Hochstenbach, Saskia Hopman, Sarina G. Kant, Ryutaro Kira, Mitsuhiro Kato, Boris Keren, Hester Y. Kroes, Michael A. Levy, Ngu Lock-Hock, Saskia M. Maas, Grazia M.S. Mancini, Carlo Marcelis, Naomichi Matsumoto, Takeshi Mizuguchi, Alessandro Mussa, Cyril Mignot, Anu Närhi, Ann Nordgren, Rolph Pfundt, Abeltje M. Polstra, Slavica Trajkova, Yolande van Bever, Marie José van den Boogaard, Jasper J. van der Smagt, Tahsin Stefan Barakat, Mariëlle Alders, Marcel M.A.M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100380- (2025)
Summary: Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, seizures, autistic features, and/or behavior abnormalities. It is caused by C
Externí odkaz:
https://doaj.org/article/4d2c1e6771da43cd9a0c73ae48b1b4d3
Autor:
Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H. Chin-Yee, Cyrus C. Hsia
Publikováno v:
Advances in Hematology, Vol 2024 (2024)
Background. Thrombocytosis is a common reason for referral to Hematology. Differentiating between secondary causes of thrombocytosis and essential thrombocythemia (ET) is often clinically challenging. A practical diagnostic approach to identify secon
Externí odkaz:
https://doaj.org/article/3d6ed8ec8ad4402b9f3ce82bd6c7a757
Autor:
Pratibha Bhai, Benjamin Chin-Yee, Victor Pope, Ian Cheong, Maxim Matyashin, Michael A. Levy, Aidin Foroutan, Alan Stuart, Cyrus C. Hsia, Hanxin Lin, Bekim Sadikovic, Ian Chin-Yee
Publikováno v:
Current Oncology, Vol 29, Iss 10, Pp 7209-7217 (2022)
Background: Since the identification of JAK2 V617F and exon 12 mutations as driver mutations in polycythemia vera (PV) in 2005, molecular testing of these mutations for patients with erythrocytosis has become a routine clinical practice. However, the
Externí odkaz:
https://doaj.org/article/3f897fc6e5724f84ae1912b24b087ec4
Autor:
Pratibha Bhai, Jacob Turowec, Stephanie Santos, Jennifer Kerkhof, LeeAnne Pickard, Aidin Foroutan, Daniel Breadner, Matthew Cecchini, Michael A. Levy, Alan Stuart, Stephen Welch, Christopher Howlett, Hanxin Lin, Bekim Sadikovic
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
BackgroundPersonalized targeted therapies have transformed management of several solid tumors. Timely and accurate detection of clinically relevant genetic variants in tumor is central to the implementation of molecular targeted therapies. To facilit
Externí odkaz:
https://doaj.org/article/aa56f829f46649b0a40108279d31d700
Autor:
Pratibha Bhai, Michael A. Levy, Kathleen Rooney, Deanna Alexis Carere, Jack Reilly, Jennifer Kerkhof, Michael Volodarsky, Alan Stuart, Mike Kadour, Karen Panabaker, Laila C. Schenkel, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
BackgroundHereditary cancer predisposition syndromes account for approximately 10% of cancer cases. Next generation sequencing (NGS) based multi-gene targeted panels is now a frontline approach to identify pathogenic mutations in cancer predispositio
Externí odkaz:
https://doaj.org/article/22fc06b1488549319e08328937c5ba16
Autor:
Eman M. Mansory, Pratibha Bhai, Alan Stuart, Lori Laudenbach, Bekim Sadikovic, Alejandro Lazo‐Langner
Publikováno v:
Research and Practice in Thrombosis and Haemostasis, Vol 5, Iss 4, Pp n/a-n/a (2021)
Abstract Congenital prothrombin deficiency is an extremely rare, autosomal recessive bleeding disorder with a prevalence of 1 in 2 million individuals. Here, we report a case of congenital prothrombin deficiency with two concurrent mutations in the p
Externí odkaz:
https://doaj.org/article/3b47b82f81924c3c86505c29a8aad3ce
Autor:
Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia Mahay, Pratibha Bhai, Renu Saxena, Ishwar C Verma
Publikováno v:
Indian Journal of Dermatology, Vol 64, Iss 2, Pp 143-145 (2019)
Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms – hypohidrotic and hidrotic. Clouston syndrome is a hidrotic ectodermal dysplasia characterized by a triad of generali
Externí odkaz:
https://doaj.org/article/b5c7d2fdd7124d34bfcf2afa10df3c37
Autor:
Benjamin, Chin-Yee, Maxim, Matyashin, Ian, Cheong, Pratibha, Bhai, Alejandro, Lazo-Langner, Ala, Almanaseer, Eri, Kawata, Michael A, Levy, Alan, Stuart, Hanxin, Lin, Ian, Chin-Yee, Bekim, Sadikovic, Cyrus, Hsia
Publikováno v:
CMAJ Open. 10:E988-E992
Molecular testing foriJAK2/imutations is part of the standard diagnostic workup for patients with suspected polycythemia vera. We sought to characterize evolving practice patterns in the investigation of erythrocytosis and the prevalence of secondary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4b41f38e07d15f15791ea24a2ce4b7
https://doi.org/10.9778/cmajo.20210322
https://doi.org/10.9778/cmajo.20210322