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441
Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency
Published 2012-01-01“…Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. …”
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442
An Unusual Occurrence of Hepatic Granulomas and Secondary Sitosterolemia in Turner Syndrome
Published 2015-01-01“…One patient had sitosterolemia, a rare inherited autosomal recessive disorder of cholesterol metabolism, after she ingested β-sitosterol supplement and had worsening liver function tests and lipid panel. …”
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443
Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature
Published 2021-01-01“…Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. …”
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444
Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report
Published 2025-03-01“…Niemann-Pick disease (NPD) is an autosomal recessive disease caused by deficient lysosomal enzyme or faulty cholesterol transport. …”
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445
Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome
Published 2015-01-01“…Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by a poikilodermatous rash starting in infancy as well as various skeletal anomalies, juvenile cataracts, and predisposition to certain cancers. …”
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446
Regional sonology of the upper limb - II: Wrist and hand
Published 2018-01-01“…Successful scanning of the wrist and hand requires good scanning equipment, thorough knowledge of anatomy and scanning protocols. The dorsal recesses of the wrist, metacarpophalangeal joint, proximal interphalangeal joint and the distal interphalangeal joint are scanned to look for joint effusion, synovial hypertrophy and cortical erosions. …”
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447
Tofersen and other antisense oligonucleotides in ALS
Published 2025-01-01“…Nusinersen treatment was a breakthrough intervention in the recessive disease spinal muscular atrophy, and superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS) seems to be the paradigm disease in dominant degenerative diseases. …”
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448
Corps embryoïdes : biologie moléculaire et cellules vivantes
Published 2019-07-01“…Embryoid bodies are constructed laboratory materials that are also steeped in emotions and profit margins, pasts and futures, in the recesses of which beats the organic pulse of the living.…”
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449
Elèves, apprentissages et « numérique » : regard rétrospectif et perspectives
Published 2014-01-01“…From audio visual aids to digital online resources, in the last 50 years, a series of waves have broken upon the educational system and then recessed. Each one has had its own characteristics, its own aims. …”
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450
Genotype Variations and Association between PAI-1 Promoter Region (4G/5G and -844G/A) and Susceptibility to Acute Myocardial Infarction and Chronic Stable Angina
Published 2021-01-01“…Also, we did not detect any significant association of -844G/A polymorphism with AMI and CSA in recessive, dominant, and codominant models. Along with the traditional risk factors, the 4G/5G allele polymorphism is an independent risk factor for the development of AMI. …”
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451
Genetic inbreeding load and its individual prediction for milk yield in French dairy sheep
Published 2025-01-01“…Abstract Background The magnitude of inbreeding depression depends on the recessive burden of the individual, which can be traced back to the hidden (recessive) inbreeding load among ancestors. …”
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452
A Roadmap to the Brittle Bones of Cystic Fibrosis
Published 2011-01-01“…Cystic fibrosis (CF) is an autosomal recessive disorder which despite advances in medical care continues to be a life-limiting and often fatal disease. …”
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453
A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants
Published 2024-01-01“…Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. …”
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454
Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age
Published 2014-01-01“…Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. …”
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455
Machine Learning for Financial Prediction Under Regime Change Using Technical Analysis: A Systematic Review
Published 2025-01-01“…Recent crises, recessions and bubbles have stressed the non-stationary nature and the presence of drastic structural changes in the financial domain. …”
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456
Acitretin Treatment for Lipoid Proteinosis
Published 2012-01-01“…Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. …”
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457
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites
Published 2012-01-01“…Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. …”
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458
Bardet-Biedl Syndrome with a Kidney Transplant, Esophageal Adenocarcinoma, and Postoperative Complications
Published 2019-01-01“…Concomitant HCV was also treated. Rare autosomal recessive syndrome with severe complications, adenocarcinoma of the esophagus, spontaneous bilateral pleural hemorrhage after the operation, and successful treatment were discussed.…”
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459
Oxygen effect on the performance of β-Ga2O3 enhancement mode MOSFETs heteroepitaxially grown on a sapphire
Published 2025-03-01“…Enhancement-mode β-Ga2O3 metal-oxide-semiconductor field-effect transistors (MOSFETs) were then fabricated with a gate-recessed process, incorporating a 5 µm gate field plate structure. …”
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460
Ameloblastoma of the Sinonasal Tract: Report of a Case with Clinicopathologic Considerations
Published 2012-01-01“…A preoperative CT scan was performed showing a solid lesion, measuring 2 cm in the maximum diameter, extending from the nasopharynx area with obstruction of the ostiomeatal unit and sphenoethmoidal recess into the lateral pharyngeal space, laterally to the parotid, without continuity with maxillary alveola and antrum. …”
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