Results 61 to 70 of about 4,210 (197)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
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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대한영상의학회지, 2017 Unilateral pulmonary artery hypoplasia or agenesis without congenital cardiovascular anomalies is rare in adults. We report a case of a 36-year-old man with isolated left unilateral pulmonary artery hypoplasia with recurrent hemoptysis.
Surin Park +5 more
doaj +1 more source
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
wiley +1 more source
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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Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden
Annals of Neurology, EarlyView.Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael +5 more
wiley +1 more source
Early life functional transitions impact craniofacial morphology in osteogenesis imperfecta
The Anatomical Record, EarlyView.Abstract Early life behaviors have a profound role in shaping adult craniofacial morphology. During early life, all mammals undergo the dynamic transition from suckling to mastication, a period coinciding with rapid cranial biomineralization. Osteogenesis imperfecta (OI), a genetic disorder that impacts the production of type I collagen, disrupts ...
Courtney A. Miller +2 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract This article reviews the pathological changes in the enamel of permanent mandibular cheek teeth and their sequelae in European roe deer from regions polluted by anthropogenic fluoride emissions. The primary (developmental) changes of fluorotic roe deer enamel are hypomineralization and microstructural aberrations, including enamel hypoplasia ...
Uwe Kierdorf, Horst Kierdorf
wiley +1 more source
Variation of Posterior Communicating Artery in Human Brain – A Morphological Study
Gomal Journal of Medical Sciences, 2013 Background: The circle of Willis, present in the interpeduncular cistern at the base of the brain, is the major source of blood supply of the brain.
Anubha Saha +3 more
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Women with hypoplastic endomentrium: getting ready for pregnancy [PDF]
Гинекология, 2014 Different pathological conditions (endocrinopathies, infectious agents prior to repeated intrauterine manipulations, the presence of functionally defective receptors endometrial tissue to the corresponding steroid hormones, progesterone ...
S Yu Kalinchenko +3 more
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