Results 61 to 70 of about 6,717,974 (341)

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

Nature Communications
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong inter-individual variability in terms of developmental phenotypes and diagnosis of co-occurring conditions.
Micah G. Donovan, Neetha P. Eduthan, Keith P. Smith, Eleanor C. Britton, Hannah R. Lyford, Paula Araya, Ross E. Granrath, Katherine A. Waugh, Belinda Enriquez Estrada, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +12 more
doaj   +1 more source

Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]

, 2012
Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id, Daniela Domanico, Enzo Maria Vingolo, Marcella Nebbioso, Paolo Trabucco, Serena Fragiotta   +5 more
core   +3 more sources

Chilaiditi Syndrome

The Journal of Pediatrics, 2016
Abstract Not ...
Evrengül, Havva, Yüksel, Selçuk, Orpak, Seda, Özhan, Bayram, Agladıoglu, Kadir   +4 more
openaire   +5 more sources

Safety and Efficacy of Anticoagulation Therapy in Paediatric Patients With Solid Tumours or Lymphomas at Risk of Thrombocytopenia: A Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Patients with solid tumours or lymphomas have an increased risk of thromboembolism (TE) and thrombocytopenia. Evidence‐based strategies for anticoagulation therapy (ACT) for patients with thrombocytopenia are limited. We examined the impact of thrombocytopenia on ACT administration and bleeding incidence in children with solid ...
Andrés Felipe Fajardo, Katherine Talpin, Bishal Harry, Uma H. Athale, Anthony K. C. Chan, Mihir D. Bhatt   +5 more
wiley   +1 more source

A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report

Journal of Biochemical and Clinical Genetics, 2020
Background: Mitochondrial DNA-depletion syndromes (MDDS) usually present with a wide spectrum of clinical manifestations, such as weakness, hypotonia, developmental delay, and/or seizures, and are categorized as myopathic, encephalomyopathic ...
Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman   +1 more
doaj   +1 more source

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

Frontiers in Pharmacology, 2021
Alpers’ syndrome is an early inceptive neurodegenerative disorder with a poor prognosis, characterized by developmental regression, intractable epilepsy, and hepatic dysfunction.
Hua Li, Wei Wang, Wei Wang, Xiaodi Han, Yujia Zhang, Lifang Dai, Manting Xu, Jie Deng, Changhong Ding, Xiaohui Wang, Chunhong Chen, Xiaofeng Yang, Fang Fang   +12 more
doaj   +1 more source

PERBEDAAN CAIRAN IRIGASI ANTARA Nacl 0,9% DAN STERIL WATER TERHADAP SYNDROME TRANSURETHRAL RESECTION OF PROSTATE (TURP) PADA PASIEN POST OPERASI TURP DI RS RK CHARITAS PALEMBANG [PDF]

, 2019
Background: Benign Prostatic Hyperplasia is a degenerative process that decreased testosterone and increased dihydrotestosterone. Prostate hyperplasia occurs due to constringency of the lumen, caused urinary retention.
Magdalena, Maria
core  

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Overgrowth Syndromes. [PDF]

The American Journal of Human Genetics, 1990
The causes of these fascinating conditions and the mechanisms by which infants of such proportions are formed remain generally unknown. Future understanding of the overgrowth syndromes is likely to be gained from studies employing the exciting new methodology of molecular genetics.
openaire   +2 more sources

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source