Molecular basis and genetics of hypohidrotic ectodermal dysplasias by V. A. Kovalskaia, T. Cherevatova, A. V. Polyakov, O. P. Ryzhkova

“…The ectodysplasin A (EDA) gene is the cause of the most common X-linked form of ED, a gene from the Wnt family (WNT10A) is responsible for the autosomal recessive form of the disease, and two other genes (EDAR and EDARADD) can cause both autosomal recessive and autosomal dominant forms. …”
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Hypoxemic Bronchiolitis Related to Major Histocompatibility Class II Deficiency by S. Hammami, H. Besbès, S. Hadded, K. Lajmi, L. Ghédira, Ch. B. Meriem, M. N. Guediche

“…Major histocompatibility complex class II expression deficiency is an autosomal recessive primary combined immunodeficiency. The prevalence of this deficiency is the highest in Mediterranean areas, especially North Africa. …”
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Meckel Gruber Syndrome- A Case Report And Review of Literature by Sümeyra Nergiz, Selda Demircan Sezer, Sündüz Özlem Altınkaya, Mert Küçük, Hasan Yüksel

“… Meckel-Gruber syndrome (MGS) is a lethal autosomal recessive disorder. MGS is thought to be caused by ciliary dysfunction. …”
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Trench's Perturbation Theorem for Dynamic Equations by Martin Bohner, Stevo Stevic

“…We consider a nonoscillatory second-order linear dynamic equation on a time scale together with a linear perturbation of this equation and give conditions on the perturbation that guarantee that the perturbed equation is also nonoscillatory and has solutions that behave asymptotically like a recessive and dominant solutions of the unperturbed equation. …”
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Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians by Parminder Kaur, Inusha Panigrahi, Harleen Kaur, Thakurvir Singh, Chakshu Chaudhry

“…We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. …”
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Oral Management of a Haematopoietic Stem Cell Transplant Recipient with Chédiak–Higashi Syndrome by Kasumi Shimizu, Miho Hayashi, Nozomi Ito, Kokoro Hamada, Gaku Koizumi, Kazuto Kurohara, Naoya Arai

“…Chédiak–Higashi syndrome (CHS), a rare autosomal recessive disorder associated with leukocyte dysfunction, is characterised by partial skin and hair albinism, immunodeficiency, and abnormal bleeding. …”
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Association of Fibrinogen Aα Thr312Ala (rs6050) Polymorphism with Venous Thrombosis and Chronic Thromboembolic Pulmonary Hypertension: A Meta-Analysis by Han Cheng MM, Haozhe Yang BM, Yantong Zhang BM, Zhanxu Wei MM, Lei Xia BM, Jing Yang PhD

“…The A allele was consistently linked to an elevated risk of VTE across all genetic models (allele, homozygote, heterozygote, recessive, and dominant model), while it was also associated with an increased risk of CTEPH under all genetic models excluding the recessive model. …”
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Molecular markers in the genetic analysis of crossability of bread wheat with rye by I. V. Porotnikov, O. Yu. Antonova, O. P. Mitrofanova

“…The markers of SKr were used to control the transfer of its recessive allele into other wheat genotypes, which made it possible to obtain highly crossable forms. …”
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Surgical management of a lateral sphenoid sinus encephalocele: 2-Dimensional operative video by Ryan W. Sindewald, Michael G. Brandel, Arvin R. Wali, Carol H. Yan, David R. Santiago-Dieppa

“…Surgical correction of the lateral sphenoid recess encephalocele is achieved via one of two endoscopic approaches: extended sphenoidotomy or transpterygopalatine. …”
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The study of genetic factors that determine the awned glume trait in bread wheat by O. B. Dobrovolskaya, A. E. Dresvyannikova, E. D. Badaeva, K. I. Popova, M. Trávníčková, P. Martinek

“…Results of allelism test and molecular-genetic mapping suggest that the gene for awned glumes in bread wheat is a recessive allele of the B1 awn suppressor. This new allele was designated the b1.ag (b1. awned glume). …”
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A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 by S. Pusti, N. Das, K. Nayek, S. Biswas

“…Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. …”
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Cereblon: A Protein Crucial to the Multiple Functions of Immunomodulatory Drugs as well as Cell Metabolism and Disease Generation by Qinglin Shi, Lijuan Chen

“…It is well known that cereblon is a key protein in autosomal recessive nonsyndromic mental retardation. Studies have reported that it has an intermediary role in helping immunomodulatory drugs perform their immunomodulatory and tumoricidal effects. …”
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Intersigmoid Hernia: A Forgotten Diagnosis—A Systematic Review of the Literature over Anatomical, Diagnostic, Surgical, and Medicolegal Aspects by Stella Chiarini, Paolo Ruscelli, Roberto Cirocchi, Vito D’Andrea, Beatrice Sensi, Alberto Santoro, Alessia Corsi, Federico Zepponi, Piergiorgio Fedeli, Sara Gioia

“…The diameter of the intersigmoid recess was reported with mean 2.65 cm (range 1–10 cm, SD 1.15 cm) and the length of the incarcerated small intestine was between 3 cm (min) and 150 cm (max): mean 25.25 cm, SD 35.04 cm. …”
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Case report: Clinical characteristics and Genetical analysis of HSD11B2 in three Chinese children with apparent mineralocorticoid excess: a case series by Yuan Ding, Yuan Ding, Ming Cheng, Ming Cheng, Bingyan Cao, Bingyan Cao, Min Liu, Min Liu, Xuyun Hu, Xuyun Hu, Di Wu, Di Wu, Di Wu

“…BackgroundApparent Mineralocorticoid Excess (AME) is a rare autosomal recessive disorder, characterized by a notably complex diagnostic process. …”
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Musculoskeletal Manifestations of Sickle Cell Anaemia: A Pictorial Review by A. Ganguly, W. Boswell, H. Aniq

“…Sickle cell anaemia is an autosomal recessive genetic condition producing abnormal haemoglobin HbS molecules that result in stiff and sticky red blood cells leading to unpredictable episodes of microvascular occlusions. …”
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Regional sonology of the upper limb - I: Shoulder by Ankit B Shah, Bipin R Shah

“…In a routine US examination of the shoulder joint, the extraarticular segment of the long head of biceps, rotator-cuff tendons and their muscle bellies, rotator interval, subacromial-subdeltoid bursa, posterior joint recess, and the acromioclavicular joint are assessed systematically.…”
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Successful Endoscopic Management of Fish Bone Embedded into the Bladder Wall by Koichi Kodama, Mitsuo Ofude, Isamu Motoi, Yoshinobu Hinoue, Katsuhiko Saito

“…Cystoscopy revealed a protruding mass, covered with normal-appearing mucosa, with outflow of pus from a shallow recess. Histopathological findings indicated that the transurethrally removed linear structure, located in the submucosa, was compatible with fish bone. …”
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Sanjad-Sakati Syndrome and Its Association with Superior Mesenteric Artery Syndrome by Osamah Abdullah AlAyed

“…Sanjad-Sakati syndrome (SSS) is an autosomal recessive disorder found exclusively in people of Arabian origin. …”
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Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever by Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç

“…Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. …”
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Prenatally suspected and clinically diagnosed congenital chloride diarrhea by Mesfin Ayalew Tsegaye, MD, Abel Benti Abchale, MD, Alemayehu Nigusssie Adugna, MD

“…Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder resulting from mutations in the SLC26A3 gene, leading to significant electrolyte imbalances and watery diarrhea starting in the prenatal period. …”
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