Results 71 to 80 of about 10,384 (199)
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. [PDF]
, 1993 In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome.Halford, Stephanie, Desmaze, C, Scambler, P, Sidi, D, Le Deist, F, Aurias, A, Prieur, M, Halford, S +7 morecore +1 more sourceGenetic Drivers of Kidney Defects in the DiGeorge Syndrome [PDF]
, 2017 Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney.Deng, Rong, Casolari, Emilio, Sampson, Matthew G, Cusi, Daniele, Katsanis, Nicholas, Martino, Jeremiah, Liu, Yangfan P, Sikora, Przemyslaw, Morrow, Bernice E, Lozanovski, Vladimir, Darlow, John, Drozdz, Dorota, Saraga Babic, Mirna, Arapovic, Adela, Racedo, Silvia E, Darlow, John M, Drummond, Iain A, Werth, Max, Gucev, Zoran, Otto, Edgar, GESUALDO, Loreto, Papaioannou, Virginia E, Lifton, Richard, Kunac, Nenad, Warady, Bradley, Petrey, Donald, Wong, Craig, Capone, Valentina P, Materna-Kiryluk, Anna, Puri, Prem, Honig, Barry, van Wijk, Joanna A. E, Makar, Gabriel S, Ghiggeri, Gian Marco, Liu, Qingxue, Zaniew, Marcin, Vukojevic, Katarina, Carrea, Alba, Zackai, Elaine H, Furth, Susan L, Sanna-Cherchi, Simone, Hakonarson, Hakon, Saraga, Marijan, Fasel, David A, Barasch, Jonathan, Racedo, Silvia, Scolari, Francesco, Barton, David, Materna Kiryluk, Anna, Wong, Craig S, Crowley, Terrence B, Verbitsky, Miguel, Tkaczyk, Marcin, Vega-Warner, Virginia, Petrey, Donald S, McDonald-McGinn, Donna M, Samii, Ali, Gillies, Christopher, Drummond, Iain, Jeanpierre, Cecile, Vega Warner, Virginia, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, MITROTTI, ADELE, Izzi, Claudia, Tasic, Velibor, van Wijk, Joanna A E, Latos-Bielenska, Anna, Lopez Rivera, Esther, Lozanovski, Vladimir J, Yan, Zhonghai, Salomon, Rémi, van Wijk, Joanna A.E., Warady, Bradley A, Allegri, Landino, Sanna Cherchi, Simone, Flogelova, Hana, Carpentier, Wassila, Furth, Susan, L., Szczepanska, Maria, Morrow, Bernice, Mcdonald-Mcginn, Donna, Fasel, David, Steers, Nicholas J, Capone, Valentina, Gharavi, Ali, Otto, Edgar A, Miklaszewska, Monika, Maiorana, Mariarosa, Szmigielska, Agnieszka, McDonald McGinn, Donna M, Hildebrandt, Friedhelm, Lopez-Rivera, Esther, Imamoto, Akira, Gillies, Christopher E, Anderson, Blair R, Heidet, Laurence, Sampson, Matthew, Vivante, Asaf, Gaillard, Dominique, Papaioannou, Virginia, Bodria, Monica, Latos Bielenska, Anna, Zackai, Elaine, Westland, Rik, Kiryluk, Krzysztof, Gharavi, Ali G, D'Agati, Vivette, Crowley, Terrence, D\u27Agati, Vivette, Mizerska Wasiak, Malgorzata, Lifton, Richard P, Barasch, Jonathan M, Steers, Nicholas, Makar, Gabriel, Anderson, Blair, Saraga-Babic, Mirna, Liu, Yangfan +117 morecore +3 more sourcesDiGeorge's Syndrome and Fetal Alcohol Syndrome
Archives of Pediatrics & Adolescent Medicine, 1983 Sir.—Four patients with clinical and laboratory features of DiGeorge's syndrome with a history of maternal alcoholism were described by Ammann et al in the article "The DiGeorge Syndrome and the Fetal Alcohol Syndrome" (Journal1982;136:906-908). In the article (p 906), Ammann and colleagues stated, "Maternal alcoholism may result in the DiGeorge ...openaire +3 more sourcesImmunocompromised Status Definition in Observational Studies Using Electronic Health Records: A Scoping Review and a Proposal for a Phenotype Identification Algorithm
Pharmacoepidemiology and Drug Safety, Volume 35, Issue 4, April 2026.ABSTRACT
Immunocompromised individuals experience an impaired immune function due to conditions that might be either congenital or acquired over the course of their lives. Epidemiological studies often rely on clinical definitions which, in some cases, benefit from being translated into machine‐readable algorithms for application to electronic health ...Judit Riera‐Arnau, Nicoletta Luxi, Fabio Riefolo, Martín Solorzano, Irene Pazos, Elena Ballarín, Lise Skovgaard Svingel, Lorenzo Chiusaroli, Elisa Martín‐Merino, Elisa Barbieri, María Lopez‐Lasanta, Sima Mohammadi, Denis Rotta, Alexandra Pacurariu, Catherine Cohet, Miriam Sturkenboom, Carlos E. Durán, on behalf of the SAFETY‐VAC study consortium, Carlos E. Durán, Miriam Sturkenboom, Judit Riera‐Arnau, Nicoletta Luxi, Olaf Klungel, Patrick Souverein, Sima Mohammadi, Fabio Riefolo, Irene Pazos, Rosa Gini, Davide Messina, Giuseppe Roberto, Carlo Giaquinto, Elisa Barbieri, Luca Stona, Felipe Villalobos, Martín Solorzano, Carlo Alberto Bissacco, Antonio Gimeno, Beatriz Poblador, Mercedes Aza, Aida Moreno, Alejandro Santos, Vera Ehrenstein, Lise Skovgaard Svingel, Benjamin Randeris Johannesen, Cécile Droz‐Perroteau, Laure Carcaillon‐Bentata, Anna‐Mija Tolppanen, Sirpa Hartikainen, Thuan Vo, Anne Paakinaho, Blair Rajamaki, Hedvig Nordeng, Saeed Hayati, Mahmoud Zidan, Juan José Carreras Martínez, Arantxa Urchueguía Fornes, Elisa Correcher Martínez, Javier Díez‐Domingo, Mar Martin, Patricia Garcia‐Poza, Airam de Burgos, Belén Castillo‐Cano, Elisa Martín‐Merino +62 morewiley +1 more sourceInactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndrome [PDF]
, 2005 Specific inactivation of TGFbeta signaling in neural crest stem cells (NCSCs) results in cardiovascular defects and thymic, parathyroid, and craniofacial anomalies.Lang, KS, Wurdak, H, Born, W, Ittner, Lars M, Fischer, Jan A, Sommer, Lukas, Karlsson, Stefan, Born, Walter, Suter, U, Sommer, L, Suter, Ueli, Lang, Karl S, Ittner, LM, Fischer, JA, Wurdak, Heiko, Leveen, Per +15 morecore +1 more sourceEssential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis
Life Science Alliance, 2020 This study presents evidence that CRK/CRKL and TBX1 may share pathways that participate in organogenesis affected in DiGeorge syndrome (22q11.2DS) via global control of gene expression and metabolism CRK and CRKL ( CRK-like ) encode adapter proteins with Akira Imamoto, Sewon Ki, Leiming Li, Kazunari Iwamoto, Venkat Maruthamuthu, John Devany, Ocean Lu, Tomomi Kanazawa, Suxiang Zhang, Takuji Yamada, Akiyoshi Hirayama, Shinji Fukuda, Yutaka Suzuki, Mariko Okada +13 moredoaj +1 more sourceExpanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)
British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.Summary
Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror +21 morewiley +1 more sourceWhen Rarity Hits Twice: Hemophagocytic Lymphohistiocytosis in Kabuki Syndrome—A Case Report From Palestine
Clinical Case Reports, Volume 14, Issue 3, March 2026.ABSTRACT
Clinicians should maintain a high index of suspicion for Hemophagocytic Lymphohistiocytosis in Kabuki syndrome patients who present with persistent fever, cytopenias, and organomegaly. Prompt diagnosis and multidisciplinary management are essential to improve outcomes in this rare but potentially fatal complication.Lilyan Jarrar, Raya Fuqha, Ahmad Mashni, Mohammad Hamdan, Sameer Alomari, Mohammad Ataya, Yazan Abed, Laith Abed +7 morewiley +1 more sourceCombined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
Molecular Cytogenetics, 2011 Background Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of ...Papadopoulou Anna, Kokotas Haris, Merou Konstantina, Kitsos George, Sofocleus Christalena, Leze Eleni, Kefalas Konstantinos, Vetro Annalisa, Sarri Catherine, Manolakos Emmanouil, Attilakos Achilleas, Petersen Michael B, Kitsiou-Tzeli Sofia +12 moredoaj +1 more sourceInterplay between RNA‐protein interactions and RNA structures in gene regulation
FEBS Open Bio, Volume 16, Issue 2, Page 299-313, February 2026.Methodological advances in mapping transcriptome‐wide RNA‐protein interactions and RNA structures have started to uncover the potential of RNP conformations in gene regulation. Competing RNA–RNA, RNA‐protein and protein–protein interactions shape the compaction and function of RNPs throughout their lifetime and may provide novel therapeutic targets in ...Jenni Rapakko, Mauro Scaravilli, Minna‐Liisa Änkö +2 morewiley +1 more source
