Works matching DE "22Q11 deletion syndrome"

Results: 788

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01884-0

By:

Süleyman, Merve;
Cagdas, Deniz;
Kiper, Pelin Özlem Şimşek;
Ütine, Gülen Eda;
Çavdar, Merve Kaşıkcı;
Tezcan, Feyzi İlhan

Publication type:

Article

Genetic components of microdeletion syndromes and their role in determining schizophrenia traits.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09731-y

By:

Biswal, Smruti Rekha;
Kumar, Ajay;
Muthuswamy, Srinivasan;
Kumar, Santosh

Publication type:

Article

Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 7, p. 1594, doi. 10.1007/s00246-021-02645-7

By:

de Rinaldis, Chiara Pandolfi;
Butensky, Adam;
Patel, Shrey;
Edman, Sharon;
Wasserman, Melissa;
McGinn, Daniel E.;
Bailey, Alice;
Zackai, Elaine H.;
Crowley, T. Blaine;
McDonald-McGinn, Donna M.;
Min, Jungwon;
Goldmuntz, Elizabeth

Publication type:

Article

T-cell Receptor Excision Circles in Newborns with Heart Defects.

Published in:

Pediatric Cardiology, 2020, v. 41, n. 4, p. 809, doi. 10.1007/s00246-020-02317-y

By:

Gul, Kiran A.;
Strand, Janne;
Pettersen, Rolf D.;
Brun, Henrik;
Abrahamsen, Tore G.

Publication type:

Article

Analysis of Gut Microbiota and Their Metabolic Potential in Patients with Schizophrenia Treated with Olanzapine: Results from a Six-Week Observational Prospective Cohort Study.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1605, doi. 10.3390/jcm8101605

By:

Pełka-Wysiecka, Justyna;
Kaczmarczyk, Mariusz;
Bąba-Kubiś, Agata;
Liśkiewicz, Paweł;
Wroński, Michał;
Skonieczna-Żydecka, Karolina;
Marlicz, Wojciech;
Misiak, Błażej;
Starzyńska, Teresa;
Kucharska-Mazur, Jolanta;
Łoniewski, Igor;
Samochowiec, Jerzy

Publication type:

Article

Risk Model Assessment in Early-Onset and Adult-Onset Schizophrenia Using Neurological Soft Signs.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1443, doi. 10.3390/jcm8091443

By:

Chen, Bao-Yu;
Tsai, I-Ning;
Lin, Jin-Jia;
Lu, Ming-Kun;
Tan, Hung-Pin;
Jang, Fong-Lin;
Gan, Shu-Ting;
Lin, Sheng-Hsiang

Publication type:

Article

Hybrid Single-Stage Repair of Kommerell's Diverticulum in a Right Aortic Arch in a Patient With 22q11.2 Deletion Syndrome.

Published in:

Vascular & Endovascular Surgery, 2022, v. 56, n. 6, p. 595, doi. 10.1177/15385744221090911

By:

Chourda, Emmanouela;
Putotto, Carolina;
Versacci, Paolo;
Saltarocchi, Sara;
D'Abramo, Mizar;
Tshomba, Yamume;
Tinelli, Giovanni;
Miraldi, Fabio

Publication type:

Article

Clinical Manifestations in the Patients with Primary Immunodeficiencies: Data from One Regional Center.

Published in:

Turkish Journal of Immunology, 2019, v. 7, n. 3, p. 113, doi. 10.25002/tji.2019.1168

By:

Boyarchuk, Oksana;
Dmytrash, Lyubov

Publication type:

Article

Knowledge of and adherence to antipsychotic medications among individuals diagnosed with schizophrenia.

Published in:

Jordan Medical Journal, 2019, v. 53, n. 3, p. 113

By:

Issa, Esraa M.;
Hamdan-Mansour, Ayman M.;
Hamaideh, Shaher H.

Publication type:

Article

The Effect of Loudness Variation on Velopharyngeal Function in Children with 22q11.2 Deletion Syndrome: A Pilot Study.

Published in:

Folia Phoniatrica et Logopaedica, 2015, v. 67, n. 2, p. 76, doi. 10.1159/000438670

By:

Cummings, Caitlin;
McCauley, Rebecca;
Baylis, adriane

Publication type:

Article

Neuregulin-1 Gene and Schizophrenia, and its Negative Symptoms in an Iranian Population.

Published in:

Iranian Journal of Psychiatry & Behavioral Sciences / Progress in Psychiatry & Behavioral Sciences, 2017, v. 11, n. 4, p. 1, doi. 10.5812/ijpbs.4484

By:

Hatami, Maryam;
Karamghadiri, Narges;
Mohaghegh, Hoorie;
Yoosefee, Sadegh;
Karimipoor, Morteza;
Hadjighasem, Mahmoudreza;
Esmaeil Shahsavand Ananloo

Publication type:

Article

Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.

Published in:

Frontiers in Pharmacology, 2020, v. 11, p. 1, doi. 10.3389/fphar.2020.00585

By:

Lee, Junghan;
Ha, Sungji;
Lee, Seung-Tae;
Park, Sung-Gyun;
Shin, Saeam;
Choi, Jong Rak;
Cheon, Keun-Ah

Publication type:

Article

Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 7, p. 1366, doi. 10.1111/ced.15170

By:

Yang, Min‐Chia;
Lin, Yu‐Chen;
Huang, Chien‐Hao;
Ko, Tsang‐Ming;
Tsai, Meng‐Che;
Kuo, Pao‐Lin;
Lee, Julia Yu‐Yun;
McGrath, John A.;
Hsu, Chao‐Kai

Publication type:

Article

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.

Published in:

European Journal of Pediatrics, 2021, v. 180, n. 10, p. 3219, doi. 10.1007/s00431-021-04097-w

By:

Miletic, Aleksandra;
Stojanovic, Jelena Ruml;
Parezanovic, Vojislav;
Rsovac, Snezana;
Drakulic, Danijela;
Soldatovic, Ivan;
Mijovic, Marija;
Bosankic, Brankica;
Petrovic, Hristina;
Borlja, Nikola;
Milivojevic, Milena;
Marjanovic, Ana;
Brankovic, Marija;
Cuturilo, Goran

Publication type:

Article

15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease.

Published in:

Neurosciences, 2022, v. 27, n. 3, p. 191, doi. 10.17712/nsj.2022.3.20220033

By:

Qianqian Sha;
Yu Xia;
Xiya Shen;
Ailian Du

Publication type:

Article

Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.

Published in:

Neurosciences, 2020, v. 25, n. 4, p. 287, doi. 10.17712/nsj.2020.4.20200045

By:

AlKalaf, Heeba Y.;
AlHashem, Amal M.;
AlSaleh, Norah S.;
AlJohar, Norah M.;
Abo Thneen, Aliyah M.;
ElGhezal, Hatem M.;
Bouhjar, Inesse B.;
Tlili-Graiess, Kalthoum;
Sahari, Atif H.;
Tabarki, Brahim M.

Publication type:

Article

Cardiometabolic Risk in First Episode Psychosis Patients.

Published in:

Frontiers in Endocrinology, 2020, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.564240

By:

Smith, Jo;
Griffiths, Lisa A.;
Band, Marie;
Horne, Dominic

Publication type:

Article

Vestibular Function Correlates with Radiologic Findings in a Gymnast with 22q11.2DS.

Published in:

American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.922908

By:

Moxham, Lindy M. R.;
Mallinson, Arthur I.

Publication type:

Article

Acute myeloid leukemia in a child with familial platelet disorder and a cryptic runx1 intragenic deletion.

Published in:

Pediatric Hematology & Oncology, 2022, v. 39, n. 6, p. 580, doi. 10.1080/08880018.2022.2035028

By:

Dodson, Lois M.;
Kurtz, Kristen J.;
Marcogliese, Andrea N.;
Friend, Brian D.;
Stevens, Alexandra M.;
Fisher, Kevin E.

Publication type:

Article

Investigating psychiatric morbidity, hopelessness and suicide risk in patients with 22q11.2 deletion syndrome: a case-control study.

Published in:

International Journal of Psychiatry in Clinical Practice, 2024, v. 28, n. 3/4, p. 198, doi. 10.1080/13651501.2024.2427624

By:

Berardelli, Isabella;
Cifrodelli, Mariarosaria;
Sarubbi, Salvatore;
Giuliani, Carlotta;
Antonelli, Giulia;
Schirripa, Fabrizio;
Putotto, Carolina;
Pulvirenti, Federica;
Innamorati, Marco;
Pompili, Maurizio

Publication type:

Article

Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis.

Published in:

2024

By:

de Oliveira-Sobrinho, Ruy Pires;
Appenzeller, Simone;
Holanda, Ianne Pessoa;
Heleno, Júlia Lôndero;
Jorente, Josep;
Vieira, Társis Paiva;
Steiner, Carlos Eduardo

Publication type:

Case Study

Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.

Published in:

Genes, 2024, v. 15, n. 3, p. 321, doi. 10.3390/genes15030321

By:

Cillo, Francesca;
Coppola, Emma;
Habetswallner, Federico;
Cecere, Francesco;
Pignata, Laura;
Toriello, Elisabetta;
De Rosa, Antonio;
Grilli, Laura;
Ammendola, Antonio;
Salerno, Paolo;
Romano, Roberta;
Cirillo, Emilia;
Merla, Giuseppe;
Riccio, Andrea;
Pignata, Claudio;
Giardino, Giuliana

Publication type:

Article

APC -Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.

Published in:

Genes, 2023, v. 14, n. 7, p. 1505, doi. 10.3390/genes14071505

By:

Privitera, Flavia;
Piccini, Flavia;
Recalcati, Maria Paola;
Presi, Silvia;
Mazzola, Silvia;
Carrera, Paola

Publication type:

Article

Description of Neuropsychological Profile in Patients with 22q11 Syndrome.

Published in:

Genes, 2023, v. 14, n. 7, p. 1347, doi. 10.3390/genes14071347

By:

Lorena, Joga-Elvira;
Sandra, Palma-Robleda

Publication type:

Article

New Insights in 9q21.13 Microdeletion Syndrome: Genotype–Phenotype Correlation of 28 Patients.

Published in:

Genes, 2023, v. 14, n. 5, p. 1116, doi. 10.3390/genes14051116

By:

De Falco, Alessandro;
Iolascon, Achille;
Ascione, Flora;
Piscopo, Carmelo

Publication type:

Article

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Published in:

Genes, 2023, v. 14, n. 3, p. 680, doi. 10.3390/genes14030680

By:

Smyk, Marta;
Geremek, Maciej;
Ziemkiewicz, Kamila;
Gambin, Tomasz;
Kutkowska-Kaźmierczak, Anna;
Kowalczyk, Katarzyna;
Plaskota, Izabela;
Wiśniowiecka-Kowalnik, Barbara;
Bartnik-Głaska, Magdalena;
Niemiec, Magdalena;
Grad, Dominika;
Piotrowicz, Małgorzata;
Gieruszczak-Białek, Dorota;
Pietrzyk, Aleksandra;
Crowley, T. Blaine;
Giunta, Victoria;
McGinn, Daniel E.;
Zackai, Elaine H.;
Tran, Oanh;
Emanuel, Beverly S.

Publication type:

Article

The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations.

Published in:

Genes, 2023, v. 14, n. 3, p. 677, doi. 10.3390/genes14030677

By:

Genovese, Ann;
Butler, Merlin G.

Publication type:

Article

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma.

Published in:

2023

By:

De Falco, Luigia;
Vitiello, Giuseppina;
Savarese, Giovanni;
Suero, Teresa;
Ruggiero, Raffaella;
Savarese, Pasquale;
Ianniello, Monica;
Petrillo, Nadia;
Bruno, Mariasole;
Legnante, Antonietta;
Passaretti, Francesco Fioravanti;
Ardisia, Carmela;
Di Spiezio Sardo, Attilio;
Fico, Antonio

Publication type:

Case Study

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.

Published in:

Genes, 2023, v. 14, n. 1, p. 146, doi. 10.3390/genes14010146

By:

Pugnaloni, Flaminia;
Onesimo, Roberta;
Blandino, Rita;
Putotto, Carolina;
Versacci, Paolo;
Delogu, Angelica Bibiana;
Leoni, Chiara;
Trevisan, Valentina;
Croci, Ileana;
Calì, Federica;
Digilio, Maria Cristina;
Zampino, Giuseppe;
Marino, Bruno;
Calcagni, Giulio

Publication type:

Article

Tonsillectomy in Children with 22q11.2 Deletion Syndrome.

Published in:

Genes, 2022, v. 13, n. 12, p. 2187, doi. 10.3390/genes13122187

By:

Arganbright, Jill M.;
Hankey, Paul Bryan;
Tracy, Meghan;
Narayanan, Srivats;
Noel-MacDonnell, Janelle;
Ingram, David

Publication type:

Article

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation.

Published in:

Genes, 2022, v. 13, n. 11, p. 2083, doi. 10.3390/genes13112083

By:

Gavril, Eva-Cristiana;
Popescu, Roxana;
Nucă, Irina;
Ciobanu, Cristian-Gabriel;
Butnariu, Lăcrămioara Ionela;
Rusu, Cristina;
Pânzaru, Monica-Cristina

Publication type:

Article

Environmental Influences on the Relation between the 22q11.2 Deletion Syndrome and Mental Health: A Literature Review.

Published in:

Genes, 2022, v. 13, n. 11, p. 2003, doi. 10.3390/genes13112003

By:

Snihirova, Yelyzaveta;
Linden, David E. J.;
van Amelsvoort, Therese;
van der Meer, Dennis

Publication type:

Article

Postoperative Hypocalcemia following Non-Cardiac Surgical Procedures in Children with 22q11.2 Deletion Syndrome †.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101905

By:

Arganbright, Jill M.;
Tracy, Meghan;
Feldt, Max;
Narayanan, Srivats;
Mahadev, Ashna;
Noel-MacDonnell, Janelle

Publication type:

Article

The Relationships between Dopaminergic, Glutamatergic, and Cognitive Functioning in 22q11.2 Deletion Syndrome: A Cross-Sectional, Multimodal 1 H-MRS and 18 F-Fallypride PET Study.

Published in:

Genes, 2022, v. 13, n. 9, p. 1672, doi. 10.3390/genes13091672

By:

van Hooijdonk, Carmen F. M.;
Tse, Desmond H. Y.;
Roosenschoon, Julia;
Ceccarini, Jenny;
Booij, Jan;
van Amelsvoort, Therese A. M. J.;
Vingerhoets, Claudia

Publication type:

Article

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited Xq24 Deletion including the UBE2A and CXorf56 Genes.

Published in:

Genes, 2021, v. 12, n. 3, p. 350, doi. 10.3390/genes12030350

By:

Wolańska, Ewelina;
Pollak, Agnieszka;
Rydzanicz, Małgorzata;
Pesz, Karolina;
Kłaniewska, Magdalena;
Rozensztrauch, Anna;
Skiba, Paweł;
Stawiński, Piotr;
Płoski, Rafał;
Śmigiel, Robert;
Ferec, Claude

Publication type:

Article

Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels.

Published in:

Genes, 2020, v. 11, n. 9, p. 977, doi. 10.3390/genes11090977

By:

Karbarz, Małgorzata

Publication type:

Article

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.

Published in:

Genes, 2020, v. 11, n. 7, p. 812, doi. 10.3390/genes11070812

By:

Vasilyeva, Tatyana A.;
Marakhonov, Andrey V.;
Sukhanova, Natella V.;
Kutsev, Sergey I.;
Zinchenko, Rena A.

Publication type:

Article

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Published in:

Genes, 2019, v. 10, n. 4, p. 279, doi. 10.3390/genes10040279

By:

Pandelache, Alison;
Baker, Emma K;
Aliaga, Solange M.;
Arpone, Marta;
Forbes, Robin;
Stark, Zornitza;
Francis, David;
Godler, David E.

Publication type:

Article

Digeorge syndrome, schizophrenia, intellectual disability and borderline personality disorder: A case report.

Published in:

Clinical Medicine Insights: Psychiatry, 2023, p. 1, doi. 10.1177/11795573231168518

By:

Khaleque, Afnan;
Bhandarkar, Ritesh

Publication type:

Article

Heterozygous Deletion of Chromosome 15q13.3 in a Boy with Developmental Regression, Global Developmental Delay, Hypotonia, and Short Stature.

Published in:

2022

By:

Strauss, Allison M.;
Buhle, Anna C.;
Finkler, David M.

Publication type:

Case Study

Medical care for patients with schizophrenia—Not on the agenda?

Published in:

Asia-Pacific Psychiatry, 2020, v. 12, n. 3, p. 1, doi. 10.1111/appy.12405

By:

Naguy, Ahmed;
Moodliar‐Rensburg, Seshni;
Alamiri, Bibi

Publication type:

Article

Sequential Whole Exome Sequencing Reveals Somatic Mutations Associated with Platinum Response in NSCLC.

Published in:

OncoTargets & Therapy, 2020, v. 13, p. 6485, doi. 10.2147/OTT.S254747

By:

Guo, Ao-Xiang;
Xiao, Fan;
Shao, Wei-Hua;
Zhan, Yan;
Zhang, Le;
Xiong, Jing;
Gao, Yang;
Yin, Ji-Ye

Publication type:

Article

22q11 deletion syndrome: current perspective.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 123, doi. 10.2147/TACG.S82105

By:

Hacıhamdioğlu, Bülent;
Hacıhamdioğlu, Duygu;
Delil, Kenan

Publication type:

Article

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era.

Published in:

Application of Clinical Genetics, 2012, v. 5, p. 1, doi. 10.2147/TACG.S21953

By:

Costain, Gregory;
Bassett, Anne S.

Publication type:

Article

Recurrent mania in an adolescent with velocardiofacial syndrome and treatment challenges.

Published in:

Bipolar Disorders, 2020, v. 22, n. 8, p. 876, doi. 10.1111/bdi.12992

By:

Hasoglu, Tuna;
Waxmonsky, James G.;
Baweja, Raman

Publication type:

Article

Correction to: CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NFIA genes.

Published in:

2021

By:

Coci, Emanuele G.;
Koehler, Udo;
Liehr, Thomas;
Stelzner, Armin;
Fink, Christian;
Langen, Hendrik;
Riedel, Joachim

Publication type:

Correction Notice

A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00514-1

By:

Gao, Li;
Zhang, Junyu;
Han, Xu;
Hu, Wenjing;
Sun, Jinling;
Tan, Yuru;
Zhao, Xinrong;
Hua, Renyi;
Wang, Shan;
Zhang, Yan;
Wang, Yanlin;
Wu, Yi

Publication type:

Article

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00513-2

By:

Azad, Abul Kalam;
Yanakakis, Lindsay;
Issleb, Samantha;
Turina, Jessica;
Drabik, Kelli;
Bonner, Christina;
Simi, Eve;
Wagner, Andrew;
Fiddler, Morry;
Naeem, Rizwan

Publication type:

Article

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00500-7

By:

Dittner-Moormann, Sabine;
Reschke, Madlen;
Biewald, Eva;
Kuechler, Alma;
Klein, Barbara;
Timmermann, Beate;
Lohmann, Dietmar;
Ketteler, Petra;
Kanber, Deniz

Publication type:

Article

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Published in:

Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00510-5

By:

Yokoyama, Emiy;
Villarroel, Camilo E.;
Diaz, Sinhué;
Del Castillo, Victoria;
Pérez-Vera, Patricia;
Salas, Consuelo;
Gómez, Samuel;
Barreda, Reneé;
Molina, Bertha;
Frias, Sara

Publication type:

Article