Results 151 to 160 of about 515,577 (303)

Unilateral retinitis pigmentosa and cone-rod dystrophy

, 2009
Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
core  

Preferential trading in agriculture: New insights from a structural gravity analysis and machine learning

American Journal of Agricultural Economics, EarlyView.
Abstract Preferential trade agreements (PTAs) contain various non‐tariff provisions, yet identifying their trade effects remains challenging because these commitments are high‐dimensional and strongly correlated within agreements. We estimated a theory‐consistent structural gravity model with domestic flows for 26 agricultural subsectors over 1988–2017
Dongin Kim, Sandro Steinbach
wiley   +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

Clinical features and biometric profile of patients presenting with unilateral high myopia. [PDF]

BMC Ophthalmol
Kaur S, Abhaypal K, Mittal H, Sukhija J.
europepmc   +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

Clinical Characteristics of Unilateral versus Bilateral Ovarian Endometriomas and Risk Stratification in Stage IV Disease Using the rASRM Score: A Retrospective Cohort Study from a Tertiary Medical Center. [PDF]

Int J Womens Health
Li YF, Li WW, Yang XH, Li XM, Yang YB, Ye QJ.   +5 more
europepmc   +1 more source

Isolated unilateral disk edema

, 2011
Paul VarnerJohn J Pershing VAMC, Poplar Bluff, MO, USAAbstract: Isolated unilateral disk edema is a familiar clinical presentation with myriad associations.
Varner P
core  

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Ethnicity and the surgical management of early invasive breast cancer in over 164 000 women

BJS (British Journal of Surgery), EarlyView., 2020
This large national study examined in detail the patterns in surgical management of early breast cancer in women of different ethnicities. Allowing for different patterns of age and stage at presentation, the surgical management of early breast cancer was similar in all women, regardless of ethnicity. All treated the same Background Limited information
T. Gathani, K. Chiuri, J. Broggio, G. Reeves, I. Barnes   +4 more
wiley   +1 more source

Perioperative complications of percutaneous nephrolithotomy and combined percutaneous nephrolithotomy with uni‑ and bilateral ureterorenoscopic stone therapy: results of the GRAND study. [PDF]

BMC Urol
Ebner B, Pfitzinger PL, Georgieva T, Blajan I, Happe M, Volz Y, Apfelbeck M, Stief CG, Chaloupka M, Pyrgidis N.   +9 more
europepmc   +1 more source