Results 91 to 100 of about 241,233 (172)

In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

Journal of Neurodevelopmental Disorders, 2019
Background 22q11.2 deletion syndrome (22q11DS), a copy number variation (CNV) disorder, occurs in approximately 1:4000 live births due to a heterozygous microdeletion at position 11.2 (proximal) on the q arm of human chromosome 22 (hChr22) (McDonald ...
Zahra Motahari, Sally Ann Moody, Thomas Michael Maynard, Anthony-Samuel LaMantia   +3 more
doaj   +1 more source

Empathy in the Context of Sibling Relationships: A Meta‐Analysis and Systematic Review

Personal Relationships, Volume 33, Issue 3, September 2026.
ABSTRACT Sibling interactions offer countless opportunities to practice empathic behavior and learn about emotional expression of others. In line, various studies have examined links between sibling relationships and empathy. Aiming to provide a systematic overview of this field of research, this meta‐analysis synthesizes studies and evaluates their ...
Annika L. Klugmann, Tina Kretschmer
wiley   +1 more source

Deletion Breakpoint Analysis in 22q11.2 Deletion Syndrome

, 2002
Conotruncal anomaly face syndrome (CAFS), DiGeorge syndrome (DGS), and velo-cardio-facial syndrome have similar but varying phenotypic spectra, i.e., cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, and share deletion ...
古谷,　喜幸, 木村,　美佐, 蓑島,　伸生, 松岡,　瑠美子, 中澤,　誠   +4 more
core  

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome [PDF]

, 2014
Objective: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and ...
Vorstman, Jacob, Simon, Tony J, Weizman, Abraham, Duijff, Sasja N, Schneider, Maude, Gur, Raquel E, Klaassen, Petra W.J., Bassett, Anne S., Klaassen, Petra W. J., Murphy, Kieran C., Swillen, Ann, Chow, Eva W.C., Duijff, Sasja N., Jalbrzikowski, Maria, Hooper, Stephen R, van den Bree, Marianne B.M., Niarchou, Maria, Gothelf, Doron, Ousley, Opal, Green, Tamar, Campbell, Linda E, Fremont, Wanda, Antshel, Kevin M., Chow, Eva WC, ?, ?, Debbane, Martin, Murphy, Declan G.; id_orcid, Murphy, Declan G., Eliez, Stephan, Vicari, Stefano, Boot, Erik, for the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Bearden, Carrie E., Antshel, Kevin M, Owen, Michael, Zackai, Elaine H, Murphy, Declan G, Bearden, Carrie E, Klaassen, Petra WJ, Campbell, Linda E., Zackai, Elaine H., Kates, Wendy R., Bassett, Anne S, Hooper, Stephen R., Van Amelsvoort, Therese, Murphy, Kieran C, Fung, Wai Lun Alan, Evers, Laurens, van den Bree, Marianne B. M., Shashi, Vandana, Simon, Tony J., van den Bree, Marianne BM, Kates, Wendy R, Gur, Raquel E., Chow, Eva W. C., Armando, Marco, McDonald-McGinn, Donna M., McDonald-McGinn, Donna M   +57 more
core   +1 more source

From a developmental atlas to maps of disease origin

Clinical and Translational Medicine, Volume 16, Issue 9, September 2026.
Jiexue Pan, Zhongliang Lin, Junlin Feng, Gaochen Zhang, Zejun Fu, Hefeng Huang, Guolian Ding   +6 more
wiley   +1 more source

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins

, 2019
The majority (99%) of individuals with 22q11.2 deletion syndrome (22q11.2DS) have a deletion that is caused by non-allelic homologous recombination between two of four low copy repeat clusters on chromosome 22q11.2 (LCR22s). However, in a small subset of
International 22q11.2 Brain, Behavior Consortium
core  

Ocular findings in the chromosome 22q11.2 deletion syndrome.

, 2007
PURPOSE: To identify the ocular features of the chromosome 22q11.2 deletion syndrome and to provide ophthalmologic examination recommendations for affected patients.
Edmond, Jane C, Forbes, Brian J, Zackai, Elaine H, DeLarato, Nicole, Binenbaum, Gil, McDonald-McGinn, Donna M   +5 more
core   +1 more source

New characterization of congenital immunodeficiencies due to different functional alterations [PDF]

, 2010
In the last thirty years of the 20th century, a formidable numbers of scientific discoveries in the field of PIDs were made. Many scientific papers have been published on the molecular and cellular basis of the immune response and on the mechanisms ...
Fusco, Anna
core  

Nasal dimple as part of the 22q11.2 deletion syndrome.

, 1997
The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion ...
Reed, L A, McDonald-McGinn, D M, Zackai, E H, Gripp, K W, Driscoll, D A, Emanuel, B S   +5 more
core   +1 more source

Neuropsychological profile in people with 22q11: a systematic review

Journal of Rare Diseases
Purpose 22q11.2 deletion syndrome is the second most common genetic disorder worldwide, significantly affecting numerical reasoning, perceptual processing, memory, executive functioning, attention, and language and communication abilities, among others ...
Esther Moraleda-Sepúlveda, Nadia Loro-Vicente, Javiera Espinosa-Villarroel   +2 more
doaj   +1 more source