Results 11 to 20 of about 1,069,656 (317)

Metabolism of low-density lipoproteins by cultured hepatocytes from normal and homozygous familial hypercholesterolemic subjects [PDF]

, 1986
The profoundly elevated concentrations of low-density lipoproteins (LDL) present in homozygous familial hypercholesterolemia lead to symptomatic cardiovascular disease and death by early adulthood.
Brewer, HB, Demosky, SJ, Edge, SB, Gregg, RE, Hoeg, JM, Starzl, TE, Triche, T   +6 more
core   +1 more source

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

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

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

Family Representatives in Family Firms [PDF]

SSRN Electronic Journal, 2012
AbstractManuscript TypeEmpiricalResearch Question/IssueFamily control in family firms can extend beyond the direct involvement of family members, but identifying these mechanisms is difficult in most markets. We utilize unique disclosures made by Taiwanese firms to examine the role played by family representatives in listed family firms.
Chen, En-Te, Gray, Stephen, Nowland, John   +2 more
openaire   +3 more sources

Familial influences on the full range of variability in attention and activity levels during adolescence: A longitudinal twin study [PDF]

, 2015
To investigate familial influences on the full range of variability in attention and activity across adolescence, we collected maternal ratings of 339 twin pairs at ages 12, 14, and 16, and estimated the transmitted and new familial influences on ...
Anokhin, Andrey P, Grant, Julia D, Heath, Andrew C, Mulligan, Richard C, Peng, Chun-Zi, Reiersen, Angela M   +5 more
core   +2 more sources

Neuromyelitis optica spectrum disorder in three generations of a Chinese family [PDF]

, 2019
© 2019 Neuromyelitis optica spectrum disorder is an inflammatory demyelinating disease that is largely sporadic. Familial disease has been reported in one or two generations, although its basis remains unknown.
Dalton, Caroline, Fachim, H.A., Luo, Z., Reynolds, G.P., Sun, P., Wei, X., Yang, W., Zhang, S.   +7 more
core   +1 more source

The patient in the family and the family in the patient

Theoretical Medicine, 1987
The notion that the family is “the unit of care” for family doctors has been enigmatic and controversial. Yet systems theory and the biopsychosocial model that results when it is imported into medicine make the family system an indispensable and important component of family medicine.
Hoffmaster, Barry, Weston, Wayne
openaire   +5 more sources

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