Results 61 to 70 of about 10,250,216 (364)

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source

Genetic counselling and family practice

South African Family Practice, 1980
No abstract available.
Johan Op't Hof
doaj   +1 more source

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT KAT6A syndrome (Arboleda–Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized.
Ye Jee Shim, Bruce Crooks, Hyoung Jin Kang, Kyung Taek Hong, Jung Yoon Choi, Hye Ra Jung, Chang Ahn Seol, Rinu Mathew, Yigal Dror   +8 more
wiley   +1 more source

Alzheimer\u27s Disease and Down\u27s Syndrome: An Overview [PDF]

, 2011
The association between Alzheimer\u27s Disease and Down\u27s Syndrome is well recognized through clinical observations and genetic studies. However, the exact nature and the implications of this link is far from clear as yet.
Desai, M.B.B.S., Dr.Devanshu
core   +1 more source

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Rare Genetic Diseases: Nature's Experiments on Human Development

iScience, 2020
Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee, Kaela S. Singleton, Melissa Wallin, Victor Faundez   +3 more
doaj   +1 more source

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

Incidence and Outcome of Infants With Cancer in Canada: A Report From Cancer in Young People in Canada Database

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine, Hallie Coltin, Maria Kondyli, Monia Marzouki, Nicolas Prud'homme, Nida Usmani, Sylvia Cheng, Lesleigh Abbott, Tony Truong, Sapna Oberoi, Ketan Kulkarni, Josée Brossard, Lynette Bowes, Paul Gibson, Donna L. Johnston, Sarah McKillop, Roona Sinha, Lillian Sung, Catherine Vezina, Laura Wheaton, Alexandra P. Zorzi, Marie‐Claude Pelland‐Marcotte, Thai Hoa Tran   +22 more
wiley   +1 more source

The Application of Clinical Genetics

The Application of Clinical Genetics, 2012
Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
doaj