Results 11 to 20 of about 604,020 (263)

Familial Hypercholesterolaemia in Children and Adolescents from 48 Countries: a cross-sectional study [PDF]

, 2023
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration: complete collaboration members are listed in the appendix (pp 4–9). INSA collaboration members: Mafalda Bourbon, Ana Catarina Alves, Ana Margarida Medeiros.Background:
European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration
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Clinical presentation of Crohn's disease. Association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery [PDF]

, 2005
Background/Aims: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in Crohn's disease (CD). It was also suggested that familial inflammatory bowel disease (IBD) is a homogenous subgroup, phenotypically ...
Gasztonyi, Beáta, Kovács, Attila, Figler, Mária, Szalay, Ferenc, Cseh, J., Mikó, Éva, Horváth, Gábor, Szekeres Barthó, J., Papp, János, Lakatos, Péter László, Molnár, Tamás, Kovács, Ágota, Lakatos, Péter, Hunyady, Béla, Tulassay, Zsolt, Kisbenedek, A. G., Lakatos, László, M Figler, J Szekeres Barthó, B Hunyady, J Cseh, AG Kisbenedek, B Gasztonyi, G Horváth, É Mikó   +24 more
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Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Spranger, S., Benninger, C., Schwab, S., Spranger, Matthias, Dichgans, Martin   +4 more
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Clinical Features, Management, and Molecular Characteristics of Familial Small Bowel Neuroendocrine Tumors

Frontiers in Endocrinology, 2021
Small bowel neuroendocrine tumors are rare tumors with an increasing incidence over the last several decades. Early detection remains challenging because patients commonly develop symptoms late in the disease course, often after the tumors have ...
James Y. Lim, Rodney F. Pommier
doaj   +1 more source

Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

BMC Medical Genomics, 2018
Background The use of next-generation sequencing approaches in clinical diagnostics has led to a tremendous increase in data and a vast number of variants of uncertain significance that require interpretation.
Corinna Ernst, Eric Hahnen, Christoph Engel, Michael Nothnagel, Jonas Weber, Rita K. Schmutzler, Jan Hauke   +6 more
doaj   +1 more source

German National Case Collection for familial pancreatic Cancer (FaPaCa) - acceptance and psychological aspects of a pancreatic cancer screening program

Hereditary Cancer in Clinical Practice, 2018
Background Pancreatic cancer screening is recommended to individuals at risk (IAR) of familial pancreatic cancer (FPC) families, but little is known about the acceptance of such screening programs.
Frederike S. Franke, Elvira Matthäi, Emily P. Slater, Christoph Schicker, Johannes Kruse, Detlef K. Bartsch   +5 more
doaj   +1 more source

Are There Familial Patterns of Symptom Dimensions in Obsessive-Compulsive Disorder?

Frontiers in Psychiatry, 2021
Background: Obsessive-compulsive disorder (OCD) is a heterogeneous illness, and emerging evidence suggests that different symptom dimensions may have distinct underlying neurobiological mechanisms. We aimed to look for familial patterns in the occurrence
Srinivas Balachander, Srinivas Balachander, Sandra Meier, Manuel Matthiesen, Manuel Matthiesen, Manuel Matthiesen, Manuel Matthiesen, Furkhan Ali, Furkhan Ali, Anand Jose Kannampuzha, Anand Jose Kannampuzha, Mahashweta Bhattacharya, Mahashweta Bhattacharya, Ravi Kumar Nadella, Vanteemar S. Sreeraj, Dhruva Ithal, Bharath Holla, Janardhanan C. Narayanaswamy, Janardhanan C. Narayanaswamy, Shyam Sundar Arumugham, Sanjeev Jain, YC Janardhan Reddy, YC Janardhan Reddy, Biju Viswanath   +23 more
doaj   +1 more source

The familial occult: Explorations at the margins of critical autoethnography

, 2023
The Familial Occult addresses the presence of occult experiences in some scholars\u27 families and how that has affected their epistemological and ontological worlds, as well as their identities as scholars.
Cotofană, Alexandra, Wedel, Johan,, Sjölander Lindqvist, Annelie,   +2 more
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Neurofibromatosis 1: A family case series

Journal of Family Medicine and Primary Care, 2022
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations.
Neha K Sethi, Charu Chadha, Sumit Goyal, Manpreet Kaur   +3 more
doaj   +1 more source

Limitations of current screening methods for lipid disorders in Korean adolescents and a proposal for an effective detection method: a nationwide, cross-sectional study [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Purpose To determine the limitations of current screening methods for lipid disorders and to suggest a new method that is effective for use in Korean adolescents. Methods Data from the 6th Korea National Health and Nutrition Examination Survey (2013–2015)
Jung Hyun Shin, Ji In Cheong, Hee Won Cheuh, Jae-Ho Yoo   +3 more
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