Results 21 to 30 of about 1,354,450 (122)

Cytokines, apoptosis and complement in 22q11.2 deletion syndrome (DiGeorge syndrome)

, 2020
The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births.
Grinde, Dina
core   +1 more source

Congenital cytomegalovirus infection in a preterm infant with 22q11.2 deletion syndrome and immunological abnormalities [PDF]

The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report a case of a preterm infant with congenital cytomegalovirus infection complicated with
Kakiuchi, Satsuki, Kato, Motohiro, Mukai, Takeo, Takahashi, Naoto, Doi, Hideki, Shitara, Yoshihiko, Toyofuku, Etsushi, Kashima, Kohei   +7 more
core   +1 more source

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
core  

A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome [PDF]

, 2014
Otitis media (OM), the inflammation of the middle ear, is the most common disease and cause for surgery in infants worldwide. Chronic Otitis media with effusion (OME) often leads to conductive hearing loss and is a common feature of a number of ...
Fuchs, JC, Baldini, A, Linden, JF, Tucker, AS   +3 more
core  

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   +1 more source

22q11.2 Deletion (DiGeorge) Syndrome: A Mother’s Open Letter [PDF]

, 2011
Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and ...
Bruno Marino, Antonio Baldini, Maria Cristina Digilio   +2 more
core   +2 more sources

Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome

22q11.2 deletion syndrome is the commonest chromosome deletion syndrome. 22q11.2 deletion may result in variable clinical phenotypes which may differ even between patients with identical deletions.
Spickett GP, McLean-Tooke A, Gennery AR
core   +5 more sources

Complement Activation in 22q11.2 Deletion Syndrome [PDF]

, 2020
The 22q11.2 deletion syndrome (22q11.2 del), also known as DiGeorge syndrome, is a genetic disorder with an estimated incidence of 1:3000 to 1:6000 births.
Øverland, Torstein, Schjalm, Camilla, Lima, Kari, Mollnes, Tom Eirik, Aresvik, Dina Mikhailovna, Grinde, Dina, Abrahamsen, Tore G   +6 more
core   +1 more source

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 ‐Related Noonan Syndrome

Clinical Genetics, Volume 110, Issue 4, Page 502-507, October 2026.
This study illustrates the phenotypic variability of LZTR1‐related Noonan syndrome type 10 in two pediatric patients, including presentations without congenital heart defects. The findings emphasize the importance of whole‐exome sequencing and longitudinal re‐evaluation of variants of uncertain significance in achieving accurate diagnosis.
Karolina Skrzyńska, Barbara Kalina‐Faska, Ewa Błaszczyk, Aneta Gawlik‐Starzyk   +3 more
wiley   +1 more source

Securing Educational Support for Children With Rare Genetic Conditions: Mothers' Experiences and Impacts on the Family

Journal of Intellectual Disability Research, Volume 70, Issue 10, Page 1063-1076, October 2026.
ABSTRACT Background Children with rare genetic conditions are more likely to experience neurodevelopmental challenges requiring additional educational support. Although the governments in the United Kingdom and Ireland are committed to providing such support, securing it can be challenging for parents, with potential adverse implications for their ...
Lowri O'Donovan, Anne‐Marie Burn, Tamsin Ford, Marianne van den Bree   +3 more
wiley   +1 more source