Results 51 to 60 of about 1,354,450 (122)

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

EVALUATING THE IMPACT OF AN ONLINE TELEPHONE, GROUP-BASED COACHING INTERVENTION FOR CAREGIVERS OF CHILDREN DIAGNOSED WITH THE 22Q11.2 DELETION SYNDROME

22q11.2 deletion syndrome (22q11DS) is a genetic disorder associated with psychiatric and behavioural challenges in affected children and elevated psychological distress in their caregivers. This thesis comprised two studies.
Carbyn, Holly
core  

Immunological defects in 22q11.2 deletion syndrome

Background: 22q11.2 Deletion syndrome, the most common congenital chromosome deletion syndrome, is associated with developmental defects including cardiac abnormalities and hypoplasia or abnormal migration of the thymus.
Spickett GP, McLean-Tooke A, Gennery AR, Barge D   +3 more
core   +4 more sources

Immunologic defects in 22q11.2 deletion syndrome

Background: 22q11.2 Deletion syndrome, the most common congenital chromosome deletion syndrome, is associated with developmental defects including cardiac abnormalities and hypoplasia or abnormal migration of the thymus.
Spickett GP, McLean-Tooke A, Gennery AR, Barge D   +3 more
core   +4 more sources

Adult-recognized 22q11.2 deletion syndrome in adult neurology practice: a brief report of two diagnostic pitfalls. [PDF]

Front Neurol
Wu D, Wang Y, Sun D, Wang J, Wang X.
europepmc   +1 more source

Peripheral Blood Morphology as a Clue to 22q11.2 Deletion Syndrome. [PDF]

EJHaem
Pfeifer J, Ziegler L, Porges LS, Feldmann JL, Zaninetti C.   +4 more
europepmc   +1 more source

Neurocognitive and Socio-Emotional Profile of Children with 22q11.2 Deletion Syndrome: Executive Functions, Social Processing Deficits and Clinical Implications. [PDF]

Int J Dev Neurosci
Megari K, Genova KD.
europepmc   +1 more source

A Systematic Review of Autoimmunity in 22q11.2 Deletion Syndrome. [PDF]

Expert Rev Mol Med
Ogunsola HY, Malik S, Rogers H, Pearce BD.   +3 more
europepmc   +1 more source

Neurogenesis defects in iPSC-derived midbrain organoids of early-onset Parkinson's disease with 22q11.2 deletion syndrome. [PDF]

Front Cell Neurosci
Ueki S, Kimura T, Tohge R, Tamada A, Oki M, Yakushiji Y, Inoue H, Kaneko S, Muguruma K.   +8 more
europepmc   +1 more source

Brazilian growth charts for 22q11.2 deletion syndrome from birth to 17 years. [PDF]

J Pediatr (Rio J)
Strafacci ASL, Bertapelli F, Alaite BFR, Heleno JL, Melo DG, Riesemberg MI, Araújo CS, Romera FA, Xavier AC, Dantas SC, Guerra-Junior G, Gil-da-Silva-Lopes VL, SD22q11.2 Research Group.   +12 more
europepmc   +1 more source