Results 61 to 70 of about 293,955 (289)

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Academic Pathology, 2020
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Ryan L. Frazier BS, Alison R. Huppmann MD   +1 more
doaj   +1 more source

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA, BILO, LEONILDA, CRISCUOLO, CHIARA, de Leva M.F., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Longo D., Pappatà S., PELUSO, SILVIO, QUARANTELLI, MARIO, Santorelli F.M., Tessa A.   +11 more
core  

The molecular genetic analysis of the expanding pachyonychia congenita case collection [PDF]

, 2014
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis.
Al-Asadi, E., Hansen, C. D., McLean, W. H. I., Milstone, L. M., O'Toole, E., Schwartz, M. E., Shepherd, A. A., Smith, F. J. D., Sprecher, E., Wilson, N. J.   +9 more
core   +3 more sources

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Impaired Cleavage of Preproinsulin Signal Peptide Linked to Autosomal-Dominant Diabetes [PDF]

, 2012
Recently, missense mutations upstream of preproinsulin’s signal peptide (SP) cleavage site were reported to cause mutant INS gene-induced diabetes of youth (MIDY).
Arvan, Peter, Barbetti, Fabrizio, Guo, Huan, Haataja, Leena, Lara-Lemus, Roberto, Larkin, Dennis, Liu, Ming, Shan, Shu-ou, Wright, Jordan   +8 more
core   +1 more source

Validation of a Genetic Risk Score Combined With Clinical Variables for Predicting Pulmonary Fibrosis in Early Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). This study aimed to externally validate a genetic risk score (GRS) and a combined risk score (CRS) for predicting the risk of RA‐associated PF in an independent cohort of patients with early RA.
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Categories of Cutaneous Mosaicism

JEADV Clinical Practice
In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant ...
Rudolf Happle
doaj   +1 more source

Autosomal Dominant Epilepsy Syndrome Linked to 2p11

Pediatric Neurology Briefs, 2002
A newly recognized autosomal dominant epilepsy syndrome with linkage to chromosome 2p11.1-q12.2 is described in an Italian pedigree of 8 patients reported from the Neurosciences Unit, Institute of Child Health and Great Ormond Street Hospital for ...
J Gordon Millichap
doaj   +1 more source

Combining Three Peripheral Blood Biomarkers to Stratify Rheumatoid Arthritis–Associated Interstitial Lung Disease Risk

Arthritis Care &Research, EarlyView.
Objective The purpose was to evaluate a biomarker score consisting of MUC5B rs35705950 promoter variant, plasma matrix metalloproteinase‐7 (MMP‐7), and serum anti–malondialdehyde‐acetaldehyde (anti‐MAA) antibody for rheumatoid arthritis (RA)–associated interstitial lung disease (ILD) risk stratification.
Kelsey Coziahr, Austin M. Wheeler, Brent A. Luedders, Michael Duryee, Halie Frideres, Katherine D. Wysham, Grant W. Cannon, Gary Kunkel, Dana P. Ascherman, Paul A. Monach, Gail S. Kerr, Andreas M. Reimold, Scott M. Matson, Joshua F. Baker, Geoffrey M. Thiele, Ted R. Mikuls, Bryant R. England   +16 more
wiley   +1 more source

TRAPS: An Autosomal Dominant Autoinflammatory Syndrome

Eurasian Journal of Medicine, 2019
Hereditary periodic fever syndromes are genetic autoinflammatory disorders characterized by recurrent attacks of fever and inflammation. These diseases include familial Mediterranean fever (FMF), Tumor necrosis factor receptor-associated periodic ...
Saliha Karatay, Meltem Alkan Melikoğlu
doaj