Works about 22Q11 deletion syndrome

Results: 770

Absent Aortic Valve in DiGeorge Syndrome.
Published in:
Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 61, doi. 10.2350/15-03-1616-CR.1
By:
- BERTSCH, ELIZABETH C.;
- MINTURN, LUCY;
- GOTTEINER, NINA L.;
- ERNST, LINDA M.
Publication type:
Article
Neuropathology of 22q11 Deletion Syndrome in an Infant.
Published in:
Pediatric & Developmental Pathology, 2014, v. 17, n. 5, p. 386, doi. 10.2350/13-11-1399-CR.1
By:
- WU, PETER;
- TEOT, LISA;
- MURDOCH, GEOFFREY;
- MONAGHAN-NICHOLS, A. PAULA;
- MCFADDEN, KATHRYN
Publication type:
Article
Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.
Published in:
Autism & Developmental Language Impairments, 2023, p. 1, doi. 10.1177/23969415231179844
By:
- Selten, Iris;
- Boerma, Tessel;
- Everaert, Emma;
- Gerrits, Ellen;
- Houben, Michiel;
- Wijnen, Frank;
- Vorstman, Jacob
Publication type:
Article
Behaviors related to autism spectrum disorder in children with developmental language disorder and children with 22q11.2 deletion syndrome.
Published in:
Autism & Developmental Language Impairments, 2023, v. 8, p. 1, doi. 10.1177/23969415231179844
By:
- Selten, Iris;
- Boerma, Tessel;
- Everaert, Emma;
- Gerrits, Ellen;
- Houben, Michiel;
- Wijnen, Frank;
- Vorstman, Jacob
Publication type:
Article
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 775, doi. 10.1007/s00439-024-02683-0
By:
- Tritto, Viviana;
- Bettinaglio, Paola;
- Mangano, Eleonora;
- Cesaretti, Claudia;
- Marasca, Federica;
- Castronovo, Chiara;
- Bordoni, Roberta;
- Battaglia, Cristina;
- Saletti, Veronica;
- Ranzani, Valeria;
- Bodega, Beatrice;
- Eoli, Marica;
- Natacci, Federica;
- Riva, Paola
Publication type:
Article
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Published in:
Human Genetics, 2021, v. 140, n. 6, p. 885, doi. 10.1007/s00439-020-02252-1
By:
- Jeanne, Médéric;
- Vuillaume, Marie-Laure;
- Ung, Dévina C.;
- Vancollie, Valerie E.;
- Wagner, Christel;
- Collins, Stephan C.;
- Vonwill, Sandrine;
- Haye, Damien;
- Chelloug, Nora;
- Pfundt, Rolph;
- Kummeling, Joost;
- Moizard, Marie-Pierre;
- Marouillat, Sylviane;
- Kleefstra, Tjitske;
- Yalcin, Binnaz;
- Laumonnier, Frédéric;
- Toutain, Annick
Publication type:
Article
Identifying common genome-wide risk genes for major psychiatric traits.
Published in:
Human Genetics, 2020, v. 139, n. 2, p. 185, doi. 10.1007/s00439-019-02096-4
By:
- Liu, Sha;
- Rao, Shuquan;
- Xu, Yong;
- Li, Jun;
- Huang, Hailiang;
- Zhang, Xu;
- Fu, Hui;
- Wang, Qiang;
- Cao, Hongbao;
- Baranova, Ancha;
- Jin, Chunhui;
- Zhang, Fuquan
Publication type:
Article
Discovery of shared genomic loci using the conditional false discovery rate approach.
Published in:
Human Genetics, 2020, v. 139, n. 1, p. 85, doi. 10.1007/s00439-019-02060-2
By:
- Smeland, Olav B.;
- Frei, Oleksandr;
- Shadrin, Alexey;
- O'Connell, Kevin;
- Fan, Chun-Chieh;
- Bahrami, Shahram;
- Holland, Dominic;
- Djurovic, Srdjan;
- Thompson, Wesley K.;
- Dale, Anders M.;
- Andreassen, Ole A.
Publication type:
Article
The genetic architecture of aniridia and Gillespie syndrome.
Published in:
Human Genetics, 2019, v. 138, n. 8/9, p. 881, doi. 10.1007/s00439-018-1934-8
By:
- Hall, Hildegard Nikki;
- Williamson, Kathleen A.;
- FitzPatrick, David R.
Publication type:
Article
Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.
Published in:
Human Genetics, 2019, v. 138, n. 1, p. 93, doi. 10.1007/s00439-018-01967-6
By:
- Dantas, Anelisa Gollo;
- Nunes, Natalia;
- Meloni, Vera Ayres;
- Carvalheira, Gianna;
- Melaragno, Maria Isabel;
- Belangero, Sintia Nogueira;
- Santoro, Marcos Leite;
- de Mello, Claudia Berlim;
- Pimenta, Larissa Salustiano Evangelista;
- Soares, Diogo Cordeiro Queiroz;
- Kim, Chong Ae
Publication type:
Article
A comparative study of insight between patients with schizophrenia and mania with psychosis.
Published in:
Indian Journal of Basic & Applied Medical Research, 2019, v. 8, n. 4, p. 15
By:
- JAYASEELI, E.;
- BOOBATHI, K. RAMESH;
- RAVIKUMAR, T.
Publication type:
Article
MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
Published in:
PeerJ, 2019, p. 1, doi. 10.7717/peerj.6183
By:
- Capkova, Pavlina;
- Srovnal, Josef;
- Capkova, Zuzana;
- Staffova, Katerina;
- Becvarova, Vera;
- Trkova, Marie;
- Adamova, Katerina;
- Santava, Alena;
- Curtisova, Vaclava;
- Hajduch, Marian;
- Prochazka, Martin
Publication type:
Article
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.
Published in:
Neurological Sciences, 2020, v. 41, n. 8, p. 2259, doi. 10.1007/s10072-020-04424-3
By:
- Romano, Chiara;
- Ferranti, Silvia;
- Mencarelli, Maria Antonietta;
- Longo, Ilaria;
- Renieri, Alessandra;
- Grosso, Salvatore
Publication type:
Article
A case of Friedreich ataxia in an adolescent with 16p11.2 microdeletion syndrome.
Published in:
2020
By:
- Pelliccia, Valentina;
- Ferranti, Silvia;
- Mostardini, Rosa;
- Grosso, Salvatore
Publication type:
Case Study
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
Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?
Published in:
Dermatology & Therapy, 2020, v. 10, n. 1, p. 213, doi. 10.1007/s13555-019-00336-z
By:
- Moro, Ruggero;
- Fabiano, Antonella;
- Calzavara-Pinton, Piergiacomo;
- Cardinale, Jacopo;
- Palumbo, Giovanni;
- Giliani, Silvia;
- Lanzi, Gaetana;
- Antonelli, Francesca;
- De Simone, Micaela;
- Martelli, Paola;
- Fazzi, Elisa;
- Pinelli, Lorenzo;
- Gualdi, Giulio
Publication type:
Article
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.
Published in:
Brain Sciences (2076-3425), 2025, v. 15, n. 1, p. 24, doi. 10.3390/brainsci15010024
By:
- Moćko, Natalia;
- Rudzki, Marcin;
- Miodońska, Zuzanna;
- Olesiak, Julia;
- Jochymczyk-Woźniak, Katarzyna;
- Kręcichwost, Michał
Publication type:
Article
Novel Compounds in the Treatment of Schizophrenia—A Selective Review.
Published in:
Brain Sciences (2076-3425), 2023, v. 13, n. 8, p. 1193, doi. 10.3390/brainsci13081193
By:
- Tsapakis, Evangelia Maria;
- Diakaki, Kalliopi;
- Miliaras, Apostolos;
- Fountoulakis, Konstantinos N.
Publication type:
Article
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 10, p. 1293, doi. 10.3390/brainsci11101293
By:
- Nicotera, Antonio Gennaro;
- Di Rosa, Gabriella;
- Turriziani, Laura;
- Costanzo, Maria Cristina;
- Stracuzzi, Emanuela;
- Vitello, Girolamo Aurelio;
- Galati Rando, Rosanna;
- Musumeci, Antonino;
- Vinci, Mirella;
- Musumeci, Sebastiano Antonino;
- Calì, Francesco
Publication type:
Article
Shared Genetic Background between Parkinson's Disease and Schizophrenia: A Two-Sample Mendelian Randomization Study.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1042, doi. 10.3390/brainsci11081042
By:
- Kim, Kiwon;
- Kim, Soyeon;
- Myung, Woojae;
- Shim, Injeong;
- Lee, Hyewon;
- Kim, Beomsu;
- Cho, Sung Kweon;
- Yoon, Joohyun;
- Kim, Doh Kwan;
- Won, Hong-Hee
Publication type:
Article
Combined Low Dose of Ketamine and Social Isolation: A Possible Model of Induced Chronic Schizophrenia-Like Symptoms in Male Albino Rats.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 7, p. 917, doi. 10.3390/brainsci11070917
By:
- Estaphan, Suzanne;
- Curpăn, Alexandrina-Stefania;
- Khalifa, Dalia;
- Rashed, Laila;
- Ciobica, Andrei;
- Cantemir, Adrian;
- Ciobica, Alin;
- Trus, Constantin;
- Ali, Mahmoud;
- ShamsEldeen, Asmaa
Publication type:
Article
A Neurodevelopment Approach for a Transitional Model of Early Onset Schizophrenia.
Published in:
Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 275, doi. 10.3390/brainsci11020275
By:
- De Berardis, Domenico;
- De Filippis, Sergio;
- Masi, Gabriele;
- Vicari, Stefano;
- Zuddas, Alessandro;
- Coffman, Brian
Publication type:
Article
EP09.73: When fetal ultrasound leads to the diagnosis of DiGeorge microdeletion in the parent.
Published in:
Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 215, doi. 10.1002/uog.28454
By:
- Orosz, G.;
- Orosz, L.;
- Kovacs‐Paszthy, B.;
- Ujfalusi, A. Koszorusne;
- Buczkó, Z. Ráczné;
- Torok, O.
Publication type:
Article
Decoding 22q11.2: prenatal profiling and first‐trimester risk assessment in Danish nationwide cohort.
Published in:
Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 1, p. 34, doi. 10.1002/uog.27466
By:
- Gadsbøll, K.;
- Vogel, I.;
- Pedersen, L. H.;
- Kristensen, S. E.;
- Steffensen, E. H.;
- Wright, A.;
- Wright, D.;
- Hyett, J.;
- Petersen, O. B.
Publication type:
Article
VP30.05: The utility of maternal plasma cell‐free fetal DNA screening in prenatal diagnosis of 22q11.2 microdeletion syndrome.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 185, doi. 10.1002/uog.22796
By:
- Law, K.;
- Ting, Y.
Publication type:
Article
VP30.02: 22q11 microdeletions and duplications: how are they detected prenatally?
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 185, doi. 10.1002/uog.22793
By:
- Gadsbøll, K.;
- Vogel, I.;
- Pedersen, L.H.;
- Petersen, O.B.
Publication type:
Article
VP18.13: Postnatal outcome of prenatally diagnosed isolated right aortic arch with concomitant right ductal arch: systematic review.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 133, doi. 10.1002/uog.22620
By:
- Cavoretto, P.I.;
- Fesslova, V.;
- Spinillo, S.;
- Pozzoni, M.;
- Girardelli, S.;
- Galdini, A.;
- Gaeta, G.;
- Farina, A.;
- Candiani, M.
Publication type:
Article
VP16.06: Left atrial isomerism associated with genetic microdeletion syndrome.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 120, doi. 10.1002/uog.22572
By:
- Rodriguez, R. Garcia;
- Gonzalez, Y. Gil;
- Garcia‐Delgado, R.;
- Gonzalez, J. Segura;
- Cárdenes, I. Ortega;
- Acosta, A. Amaro;
- Cruz, L. Garcia;
- Castellano, M. Medina;
- Rodriguez, A.S.
Publication type:
Article
VP14.10: Prenatal diagnosis of vascular rings and its clinical significance in postnatal life.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 110, doi. 10.1002/uog.22539
By:
- Chang, S.;
- Kosiv, K.A.;
- Karnik, R.;
- Kohari, K.;
- Miller, A.;
- Bahtiyar, M.O.;
- Copel, J.A.;
- Ferdman, D.
Publication type:
Article
VP06.07: Prenatal ultrasonography of 5p deletion syndrome: literature review.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 77, doi. 10.1002/uog.22419
By:
- Yu, N.F.;
- Mak, A.;
- Leung, K.Y.
Publication type:
Article
VP06.06: Changing pattern in prenatal diagnosis of 5p deletion syndrome: a review of available methodology over four decades.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 76, doi. 10.1002/uog.22418
By:
- Yu, N.F.;
- Mak, A.;
- Leung, K.Y.
Publication type:
Article
VP05.05: Dilated cavum septi pellucidi in fetuses with microdeletion 22q11: retrospective study in the GENNET clinic 2010–2019, Czechia.
Published in:
Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 74, doi. 10.1002/uog.22410
By:
- Smetanova, D.
Publication type:
Article
Genetic association of retroesophageal left brachiocephalic vein.
Published in:
Ultrasound in Obstetrics & Gynecology, 2019, v. 54, n. 6, p. 836, doi. 10.1002/uog.20275
By:
- Chan, Y. M.;
- Law, K. M.;
- Poon, L. C. Y.;
- Luk, H. M.;
- Cheng, Y. K. Y.;
- Leung, T. Y.
Publication type:
Article
OC21.02: The incidence of genetic variants in fetuses with severe congenital heart defects.
Published in:
Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 53, doi. 10.1002/uog.20567
By:
- Nisselrooij, A.;
- Lugthart, M.;
- Santen, G.;
- Aten, E.;
- Clur, S.B.;
- Linskens, I.;
- Pajkrt, E.;
- Rammeloo, L.;
- Van Lith, J.;
- Blom, N.;
- Haak, M.C.
Publication type:
Article
OC06.04: Population‐based prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort.
Published in:
Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 14, doi. 10.1002/uog.20459
By:
- Hui, L.;
- Poulton, A.;
- Kluckow, E.;
- Lindquist, A.;
- Hutchinson, B.;
- Pertile, M.D.;
- Bonacquisto, L.;
- Gugasyan, L.;
- Kulkarni, A.;
- Harraway, J.;
- Howden, A.;
- McCoy, R.;
- da Silva Costa, F.;
- Menezes, M.;
- Palma‐Dias, R.;
- Nisbet, D.;
- Martin, N.;
- Bethune, M.;
- Poulakis, Z.;
- Halliday, J.
Publication type:
Article
P13.07: Fetal aortic arch and its branches anomalies: prenatal ultrasound, vascular cast and gene detection.
Published in:
Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 171, doi. 10.1002/uog.19719
By:
- Weng, Z.;
- Hao, X.;
- Gao, S.;
- Ge, S.;
- He, Y.
Publication type:
Article
P02.05: Is prenatal detection of isolated aberrant right subclavian artery associated with aneuploidy and 22q11 microdeletion?
Published in:
Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 142, doi. 10.1002/uog.19629
By:
- Cheong, C.;
- Thia, E.;
- Yeo, S.
Publication type:
Article
P01.02: Frequency of 22q11 microdeletion syndrome in fetuses with conotruncal heart disease.
Published in:
Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 138, doi. 10.1002/uog.19616
By:
- Hao, X.;
- Gu, X.;
- Sun, H.;
- Ge, S.;
- He, Y.
Publication type:
Article
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
Published in:
2016
By:
- Gross, S. J.;
- Stosic, M.;
- McDonald‐McGinn, D. M.;
- Bassett, A. S.;
- Norvez, A.;
- Dhamankar, R.;
- Kobara, K.;
- Kirkizlar, E.;
- Zimmermann, B.;
- Wayham, N.;
- Babiarz, J. E.;
- Ryan, A.;
- Jinnett, K. N.;
- Demko, Z.;
- Benn, P.
Publication type:
journal article
Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion.
Published in:
2015
By:
- Vigneswaran, T. V.;
- Kametas, N. A.;
- Zinevich, Y.;
- Bataeva, R.;
- Allan, L. D.;
- Zidere, V.
Publication type:
journal article
Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes
Published in:
Ultrasound in Obstetrics & Gynecology, 2013, v. 41, n. 2, p. 172, doi. 10.1002/uog.11194
By:
- Bataeva, R.;
- Bellsham‐Revell, H.;
- Zidere, V.;
- Allan, L. D.
Publication type:
Article
Right aortic arch with patent right ductus arteriosus and normal heart.
Published in:
Ultrasound in Obstetrics & Gynecology, 2012, v. 40, n. 1, p. 115, doi. 10.1002/uog.10076
By:
- Iliescu, D. G.;
- Comanescu, A. C.;
- Tudorache, S.;
- Cernea, N.
Publication type:
Article
The Role of Zebrafish and Laboratory Rodents in Schizophrenia Research.
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyt.2020.00703
By:
- Langova, Veronika;
- Vales, Karel;
- Horka, Petra;
- Horacek, Jiri
Publication type:
Article
Maternal Immune Activation and the Development of Dopaminergic Neurotransmission of the Offspring: Relevance for Schizophrenia and Other Psychoses.
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyt.2020.00852
By:
- Aguilar-Valles, Argel;
- Rodrigue, Brandon;
- Matta-Camacho, Edna
Publication type:
Article
The Gut Microbiome in Psychosis From Mice to Men: A Systematic Review of Preclinical and Clinical Studies.
Published in:
Frontiers in Psychiatry, 2020, p. N.PAG, doi. 10.3389/fpsyt.2020.00799
By:
- Kraeuter, Ann-Katrin;
- Phillips, Riana;
- Sarnyai, Zoltán
Publication type:
Article
The Attenuated Psychosis Syndrome and Facial Affect Processing in Adolescents With and Without Autism.
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. N.PAG, doi. 10.3389/fpsyt.2020.00759
By:
- Maat, Arija;
- Therman, Sebastian;
- Swaab, Hanna;
- Ziermans, Tim
Publication type:
Article
Chronicity and Sex Affect Genetic Risk Prediction in Schizophrenia.
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00313
By:
- Meier, Sandra M.;
- Kähler, Anna K.;
- Bergen, Sarah E.;
- Sullivan, Patrick F.;
- Hultman, Christina M.;
- Mattheisen, Manuel
Publication type:
Article
Psychiatric Diagnoses and Treatment Preceding Schizophrenia in Adolescents Aged 9–17 Years.
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00487
By:
- Kang-Yi, Christina D.;
- Chao, Brian;
- Teng, Shelly;
- Locke, Jill;
- Mandell, David S.;
- Wong, Yin-Ling Irene;
- Epperson, C. Neill
Publication type:
Article
Chemosensory Anhedonia in Patients With Schizophrenia and Individuals With Schizotypy: A Questionnaire Study.
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00481
By:
- Li, Zi-lin;
- Huang, Gao-jie;
- Li, Ze-tian;
- Li, Shu-bin;
- Wang, Yi-le;
- Zhao, Jiu-bo;
- Wen, Jin-feng;
- Hummel, Thomas;
- Zou, Lai-quan
Publication type:
Article
Commentary: Preventive Treatments for Psychosis: Umbrella Review (Just the Evidence).
Published in:
Frontiers in Psychiatry, 2020, v. 11, p. 1, doi. 10.3389/fpsyt.2020.00488
By:
- Nelson, Barnaby;
- Amminger, G. Paul;
- Thompson, Andrew;
- Wood, Stephen J.;
- Yung, Alison R.;
- McGorry, Patrick D.
Publication type:
Article