Results 101 to 110 of about 241,233 (172)

A Case Series of Hypogonadism in 22q11.2 Deletion Syndrome: Is It Time to Check the Gonadal Axis?

Journal of Investigative Medicine High Impact Case Reports
22q11.2 deletion syndrome is a multifaceted disorder most characterized by congenital cardiac anomalies, immunodeficiency, and psychiatric conditions. Endocrine abnormalities such as hypoparathyroidism and growth hormone deficiency are well documented ...
Lauren Waidner BS, Lauryn Bachman BS, Jeremy Purow BA, Brenda Cisneros MD, Evana Valenzuela Scheker MD, Hanadys Ale MD   +5 more
doaj   +1 more source

22q11 deletion syndrome: current perspective

The Application of Clinical Genetics, 2015
Bülent Hacihamdioğlu,1 Duygu Hacihamdioğlu,2 Kenan Delil3 1Department of Pediatric Endocrinology, 2Department of Pediatric Nephrology, GATA Haydarpasa Training Hospital, 3Department of Medical Genetics, Marmara University, School of Medicine ...
Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K   +2 more
doaj  

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  

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.

, 2008
Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) syndromes) have included posterior embryotoxon (prominent, anteriorly displaced Schwalbe\u27s ...
Zabel, Carrie, Coleman, Karlene, Walker, B Michael, Manning, Melanie, Zackai, Elaine H, Adam, Margaret, Forbes, Brian J, Anderson, Dennis R, Binenbaum, Gil, McDonald-McGinn, Donna M, Mach, Amy M, Alcorn, Deborah M   +11 more
core   +1 more source

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

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

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

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