Results 171 to 180 of about 1,639,589 (408)

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland

Renal Failure, 2019
Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic cause of renal impairment resulting from mutations in the MUC1, UMOD, HNF1B, REN, and SEC61A1 genes.
S. Cormican, D. M. Connaughton, C. Kennedy, S. Murray, M. Živná, S. Kmoch, N. K. Fennelly, P. O’Kelly, K. A. Benson, E. T. Conlon, G. Cavalleri, C. Foley, B. Doyle, A. Dorman, M. A. Little, P. Lavin, K. Kidd, A. J. Bleyer, P. J. Conlon   +18 more
doaj   +1 more source

Maximum likelihood estimators for scaled mutation rates in an equilibrium mutation-drift model [PDF]

arXiv, 2019
The stationary sampling distribution of a neutral decoupled Moran or Wright-Fisher diffusion with neutral mutations is known to first order for a general rate matrix with small but otherwise unconstrained mutation rates. Using this distribution as a starting point we derive results for maximum likelihood estimates of scaled mutation rates from site ...
arxiv  

726 AUTOSOMAL DOMINANT ANTERIOR SEGMENT DYSGENESIS WITH VARIABLE EXPRESSIVITY: PROBABLE LINKAGE TO MNS BLOOD GROUP ON CHROMOSOME 4 [PDF]

, 1981
Helen Mintz Hittner, Robert E. Ferrell, James H. Antoszyk, Frank L. Kretzer, Arnold J. Rudolph   +4 more
openalex   +1 more source

Computer Security Risks of Distant Relative Matching in Consumer Genetic Databases [PDF]

arXiv, 2018
Consumer genetic testing has become immensely popular in recent years and has lead to the creation of large scale genetic databases containing millions of dense autosomal genotype profiles. One of the most used features offered by genetic databases is the ability to find distant relatives using a technique called relative matching (or DNA matching ...
arxiv  

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Cleidocranial dysplasia—A case report of incidentally found and lately diagnosed disorder

Clinical Case Reports, 2022
Aayush Adhikari, Suraj Shrestha, Prabin Bhattarai, Surendra Khanal, Rajan Lamichhane, Ramesh Balayar, Sobin Panta, Kundan Marasini   +7 more
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort – Implications for NOTCH3 Variant‐Specific Disease Prediction

Annals of Neurology, EarlyView.
Objective Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine‐altering variants in NOTCH3.
Minne N. Cerfontaine, Gido Gravesteijn, Remco J. Hack, Kyra L. Dijkstra, Mar Rodríguez‐Girondo, Benno Gesierich, Marie‐Noëlle W. Witjes‐Ané, Remco van Doorn, Marco Duering, Julie W. Rutten, Saskia A. J. Lesnik Oberstein   +10 more
wiley   +1 more source

Resistance to Paracoccidioides brasiliensis in mice is controlled by a single dominant autosomal gene [PDF]

, 1987
Vera Lúcia Garcia Calich, Eva Burger, Suely Sanae Kashino, R A Fazioli, L M Singer-Vermes   +4 more
openalex   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source