Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Digeorge syndrome[original query] |
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PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Human molecular genetics 2002 Sep 11 (19): 2243-9. Jacquet Hélène, Raux Grégory, Thibaut Florence, Hecketsweiler Bernadette, Houy Emmanuelle, Demilly Caroline, Haouzir Sadeq, Allio Gabrielle, Fouldrin Gael, Drouin Valérie, Bou Jacqueline, Petit Michel, Campion Dominique, Frébourg Thier |
Functional consequences of PRODH missense mutations. American journal of human genetics 2005 1 76 (3): 409-20. Bender Hans-Ulrich, Almashanu Shlomo, Steel Gary, Hu Chien-An, Lin Wei-Wen, Willis Alecia, Pulver Ann, Valle Dav |
Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia. Journal of neural transmission (Vienna, Austria : 1996) 2006 Oct 113 (10): 1551-61. Wang H, Duan S, Du J, Li X, Xu Y, Zhang Z, Wang Y, Huang G, Feng G, He |
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European journal of medical genetics 2010 1 53 (2): 55-60. Draaken Markus, Reutter Heiko, Schramm Charlotte, Bartels Enrika, Boemers Thomas M, Ebert Anne-Karoline, Rösch Wolfgang, Schröder Annette, Stein Raimund, Moebus Susanne, Stienen Dietlinde, Hoffmann Per, Nöthen Markus M, Ludwig Micha |
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. American journal of medical genetics. Part A 2012 Oct . Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE |
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Molecular cytogenetics 2014 7 (1): 75. D'Angelo Carla S, Varela Monica C, de Castro Cláudia Ie, Kim Chong A, Bertola Débora R, Lourenço Charles M, Perez Ana Beatriz A, Koiffmann Celia |
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. American journal of human genetics 2015 May 96 (5): 753-64. Mlynarski Elisabeth E, Sheridan Molly B, Xie Michael, Guo Tingwei, Racedo Silvia E, McDonald-McGinn Donna M, Gai Xiaowu, Chow Eva W C, Vorstman Jacob, Swillen Ann, Devriendt Koen, Breckpot Jeroen, Digilio Maria Cristina, Marino Bruno, Dallapiccola Bruno, Philip Nicole, Simon Tony J, Roberts Amy E, Piotrowicz Ma?gorzata, Bearden Carrie E, Eliez Stephan, Gothelf Doron, Coleman Karlene, Kates Wendy R, Devoto Marcella, Zackai Elaine, Heine-Suñer Damian, Shaikh Tamim H, Bassett Anne S, Goldmuntz Elizabeth, Morrow Bernice E, Emanuel Beverly S, |
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation. Cardiovascular genetics 2017 Oct 10 (5): . Guo Tingwei, Repetto Gabriela M, McDonald McGinn Donna M, Chung Jonathan H, Nomaru Hiroko, Campbell Christopher L, Blonska Anna, Bassett Anne S, Chow Eva W C, Mlynarski Elisabeth E, Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E, Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E, Digilio M Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E, Piotrowicz Ma?gorzata, Hawu?a Wanda, Roberts Amy E, Tassone Flora, Simon Tony J, van Duin Esther D A, van Amelsvoort Thérèse A, Kates Wendy R, Zackai Elaine, Johnston H Richard, Cutler David J, Agopian A J, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Emanuel Beverly S, Morrow Bernice E, |
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 8 34 (12): 2254-2263. Wang Yabing, Nie Min, Wang Ou, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion. The journal of allergy and clinical immunology. In practice 2020 7 8 (9): 3112-3120. Cirillo Emilia, Prencipe Maria Rosaria, Giardino Giuliana, Romano Roberta, Scalia Giulia, Genesio Rita, Nitsch Lucio, Pignata Claud |
CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2020 2 26 (6): 642-650. Wang Yabing, Wang Ou, Nie Min, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021 Mar . Stefekova Andrea, Capkova Pavlina, Capkova Zuzana, Curtisova Vaclava, Srovnal Josef, Mracka Enkhjargalan, Klaskova Eva, Prochazka Mart |
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