Results 71 to 80 of about 97,105 (315)
КЛИНИКО-МОРФОЛОГИЧЕСКАЯ ХАРАКТЕРИСТИКА ЛИМФОИДНЫХ ОРГАНОВ У ТЕЛЯТ ПРИ ИММУНОДЕФИЦИТЕ
Ветеринарная патология, 2011 In a complex examination of calves with signs of malnutrition found evidence of immunodeficiency, characterized by hypothermia, anemia, hypoproteinemia, decreased albumin and gamma-globulins in the blood.
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Neuroanatomy of Fragile X Syndrome
Pediatric Neurology Briefs, 1991 Posterior fossa abnormalities measured by magnetic resonance images of the brain were reported in a group of 14 males with fragile X syndrome from the Division of Child Psychiatry, and the Departments of Psychiatry and Radiology, The Johns Hopkins ...
J Gordon Millichap
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The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
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Hypoplasia of defunctioned rectum
Journal of British Surgery, 1989 Abstract The adaptive response of the large bowel to surgical defunction in man is essentially unknown, although in the rat there is progressive hypoplasia and a reduced propensity to experimental carcinogenesis. Mucosal biopsies were taken from the upper rectum completely defunctioned by a proximal stoma from 2 months to 5 years earlier
G V, Appleton, R C, Williamson
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Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
, 1999 Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ +12 more
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
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Clinical observation: congenital cystic adenomatoid malformation [PDF]
Саратовский научно-медицинский журнал, 2014 The aim of the article is to describe the case of congenital cystic adenomatoid malformation. The definition of this pathology, its morphology, classification, frequency and clinical forms are considered in the work.
Chernenkov Yu.V. +3 more
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Dental Journal, 2007 The aim of this study is to know the effect of lipopoly saccharide (LPS) induction during growth and development period specifically the occurrence of hypoplasia on tooth enamel. 5 day old male wistar rats divided into two groups. Group 1 (control) under
Didin Erma Indahyani +3 more
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Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
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American Journal of Perinatology Reports, 2019 In fetuses, the Eustachian valve directs oxygenated blood returning from the inferior vena cava into the left atrium via the foramen ovale. If too large, the Eustachian valve can restrict right ventricular inflow, as well as induce postnatal cyanosis via
Ayaka Iwatani +7 more
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