Results 241 to 250 of about 210,137 (310)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Subsequent Meningiomas Among Survivors of Childhood Cancer.

JAMA Netw Open
Bowers DC, Cooney T, Chen Y, Yuan Y, Galvin R, Im C, Leisenring W, Brady SW, Smith SA, Howell RM, Arnold MA, Conces M, Yasui Y, Diller LR, Armstrong GT, Neglia JP, Turcotte LM.   +16 more
europepmc   +1 more source

Survey among childhood cancer survivors about their preferences on functionalities of a to-be-developed Survivorship Passport Mobile App. [PDF]

Tumori
Oberti S, Manuzi G, Fragola M, Gsell H, Muraca M, Beccaria A, Kienesberger A, Schneider C, Tomasikova Z, Latteur J, Kremer LCM, Haupt R, Tallone R, PanCareFollowUp consortium.   +13 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Skeletal muscle health in childhood cancer survivors: a systematic review and meta-analysis. [PDF]

Support Care Cancer
Markarian AM, Taaffe DR, Galvão DA, Peddle-McIntyre CJ, Wilkie JC, Bettariga F, Gottardo NG, Dhamija M, Valvi S, Buchanan CM, Graham K, Newton RU.   +11 more
europepmc   +1 more source

Swiss Childhood Cancer Registry: Annual Report 2011/2012 [PDF]

, 2013
Wölfli, Priska, Lamontagne-Müller, Isabelle, Michel, Gisela, Sommer, Grit, Hau, Eva, Von der Weid, Nicolas, Hengartner, Heinz, Mitter, Vera, Rüegg, Corina Silvia, Kuehni, Claudia, Niggli, Felix, Gianinazzi, Micol Eva   +11 more
core  

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Kidney disease and transplantation in childhood cancer survivors. [PDF]

Pediatr Nephrol
Kane AS, Bravo WC.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source