Results 111 to 120 of about 16,672 (213)

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]

, 2020
Arya, Bhawna, Buddhe, Sujatha, Chikkabyrappa, Sathish, Doshi, Arpan, Frandsen, Erik   +4 more
core   +2 more sources

A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. [PDF]

, 2014
BACKGROUND: Microduplications 22q11 have been characterized as a genomic duplication syndrome mediated by nonallelic homologous recombination between region-specific low-copy repeats.
Fekete, György, Haltrich, Irén, Karcagi, Veronika, Kiss, Eszter, Pikó, Henriett, Tóth, Zsuzsa   +5 more
core   +3 more sources

A young man with DiGeorge syndrome and tachycardia. [PDF]

Neth Heart J, 2023
Bradt N, Franceus L, Fouckova A, Alzand B.   +3 more
europepmc   +2 more sources

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.

PLoS Genetics
The most frequent and unique features of Down syndrome (DS) are learning disability and craniofacial (CF) dysmorphism. The DS-specific CF features are an overall reduction in head dimensions (microcephaly), relatively wide and broad neurocranium ...
José Tomás Ahumada Saavedra, Claire Chevalier, Agnes Bloch Zupan, Yann Herault   +3 more
doaj   +1 more source

Surveillance of syndromes with congenital anomalies affecting multiple systems: data from Portuguese National Registry between 2000 and 2013 [PDF]

, 2016
O Registo Nacional de Anomalias Congénitas (RENAC) recebe notificações da ocorrência de anomalias congénitas diagnosticadas até ao final do 1º mês de vida, algumas das quais são raras.
Braz, Paula, Machado, Ausenda, Matias Dias, Carlos   +2 more
core  

DiGeorge Syndrome With Absence of Speech: A Rare Case. [PDF]

Cureus, 2023
Jayaprakasan SK, Nageye ME, Siddiqui A, Suero G, Pimentel Campillo J, Holder SS.   +5 more
europepmc   +1 more source

Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome. [PDF]

Healthcare (Basel), 2023
Gorelova M, Rysankova K, Donin G, Kneppo P, Rogalewicz V.   +4 more
europepmc   +1 more source

DiGeorge Syndrome

Asthma Allergy Immunology, 2016
Bahar Göktürk, İsmail Reisli
openaire   +2 more sources

Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. [PDF]

Int J Mol Sci, 2023
Menghi M, Micangeli G, Tarani F, Putotto C, Pirro F, Mariani A, Petrella C, Pulvirenti F, Cinicola B, Colloridi F, Tarani L, Fiore M.   +11 more
europepmc   +1 more source

Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome. [PDF]

Commun Biol, 2023
Chan CH, Lam YY, Wong N, Geng L, Zhang J, Ahola V, Zare A, Li RA, Lanner F, Keung W, Cheung YF.   +10 more
europepmc   +1 more source