نتایج جستجو برای: genetic disorder

تعداد نتایج: 1161670  

Journal: :Biomedical Research and Therapy 2023

Over recent years, nanotechnology has been used in a wide variety of applications, including different fields medical diagnosis and treatment. Migraine is neurobiological disorder that associated with severe headaches other autonomic neurological symptoms. The interaction between nanomaterials immune system components among the areas interest treatment measures. This review summarizes advances ...

Journal: :Schizophrenia bulletin 2014
Alastair G Cardno Michael J Owen

There is substantial evidence for partial overlap of genetic influences on schizophrenia and bipolar disorder, with family, twin, and adoption studies showing a genetic correlation between the disorders of around 0.6. Results of genome-wide association studies are consistent with commonly occurring genetic risk variants, contributing to both the shared and nonshared aspects, while studies of la...

Journal: :gene, cell and tissue 0
farah talebi milad genetic counseling center, ahvaz, ir iran farideh ghanbari department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, ir iran; department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, ir iran. tel/fax: +98-6136233884 javad mohammadi asl department of medical genetics, faculty of medicine, ahvaz jundishapur university of medical sciences, ahvaz, ir iran

introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...

Journal: :Psychological medicine 2008
M A Distel T J Trull C A Derom E W Thiery M A Grimmer N G Martin G Willemsen D I Boomsma

BACKGROUND Most of our knowledge about borderline personality disorder features has been obtained through the study of clinical samples. Although these studies are important in their own right, they are limited in their ability to address certain important epidemiological and aetiological questions such as the degree to which there is a genetic influence on the manifestation of borderline perso...

Amir Hooshang Bavarsad, Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Masoumeh Salehi Kambo,

Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...

سید محمد اکرمی, , غلامرضا یوسف زاده, ,

Background: Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide.C...

Diana Ramirez-Montaño Estephania Candelo, Harry Pachajoa, Lorena Díaz-Ordoñez Santiago Cruz,

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech dela...

2016

In medicine and medical genetics, one often encounters the phrase complex genetic disorder to refer to many common syndromes like diabetes, cancers, and hypertension. The definition of a complex genetic disorder is quite simple—it is a disorder that has something genetic going on but no one has a clue as to what the genetics are. The term complex genetic disorder is actually a misnomer because ...

Journal: :iranian journal of public health 0
hasnain abbas dharamshi karachi medical and dental college, karachi, pakistan. tufail raza baqai medical college, karachi, pakistan. ali abbas mohsin ali sindh medical college/dow university of health sciences, karachi, pakistan. zuhair lilani karachi medical and dental college, karachi, pakistan. syed zohaib ahsan sindh medical college/dow university of health sciences, karachi, pakistan. ahmad faraz karachi medical and dental college, karachi, pakistan.

crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. its most notable characteristic feature is premature synostosis of cranial sutures the case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndrome after c...

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