Results 161 to 170 of about 88,056,303 (299)

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

Incidence of Germline Genetic Variants in Patients with a Urinary Tract Cancer and Association with Outcomes. [PDF]

Eur Urol Oncol
Kamau K, Byrne L, Goradia R, Sundi D, Meng L, Yang Y, Gauntner TD, Wang SJ, Clinton SK, Mortazavi A, Stover DG, Sood A, Collier KA.   +12 more
europepmc   +1 more source

Genetic predisposition of ischaemic heart disease [PDF]

Postgraduate Medical Journal, 1997
M Odawara, A Matsunuma, K Yamashita
openaire   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Type 1 diabetes: from genetic predisposition to hypothetical environmental triggers

, 2012
peer reviewedType 1 diabetes is an autoimmune disease that results in a progressive (complete in most cases) destruction of insulin-secreting beta cells from Langerhans islets.
Radermecker, Régis, Phlips, J.-C.
core  

Beyond the variant: hereditary cancer awareness in the multi-omics era. [PDF]

Hereditas
Kazi JU, Massoumi R.
europepmc   +1 more source

Genetic predisposition to disease (legal analysis)

, 2000
RésuméLa prédisposition génétique est un risque endogène, d’origine génétique, de contracter une maladie ou de la transmettre à ses enfants, risque dont la réalisation incertaine est soumise à des facteurs catalyseurs exogènes. Depuis 1994, des conditions ont été posées par le législateur à la détection de prédisposition génétique.
openaire   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort. [PDF]

Nat Commun
Taylan F, Staffas A, Sjögren S, Lagerstedt-Robinson K, Kuchinskaya E, Poluha A, Ivarsson S, Hellberg M, Klar J, Abel F, Abrahamsson J, Pronk CJ, Belander Strålin K, Harila A, Vogt H, Norén-Nyström U, Grillner P, Palmqvist L, Arvidsson L, Pandzic T, Bondeson ML, Mu N, Ekholm K, Anderlid BM, Golovleva I, Maya-González C, Gideonsson P, Tham E, Barbany G, Lähteenmäki P, Sandgren J, Rosenquist R, Wirta V, Ljungman G, Gisselsson D, Palle J, Tesi B, Nordgren A.   +37 more
europepmc   +1 more source