نتایج جستجو برای: chromosome 14.

تعداد نتایج: 471848  

Journal: :iranian biomedical journal 0
مصطفی سعادت mostafa saadat دلاور شهباز زاده delavar shahbaz-zadelf

the gene encoding alpha fetoprotein (locus symbol afp) was assigned to rat chromosome 14 at band p21-p22 using fluorescence in situ hybridization method. the present result suggests that there is a conserved syntenic group between human 4q11-q13, mouse 5f-g, and rat 14p21-p22.

Journal: :journal of research in medical sciences 0
mir davood omrani department of genetics, uremia university of medical sciences soraya saleh gargari department of obstetrics and gynecology, uremia university of medical sciences

uniparental disomy (upd) is a situation in which both members of a chromosome pair are inherited from one parent. this study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. the parents were first cousins and they both had robertsonian translocation between their long arm of chromosome 13 and 14 [45, xy t (13q14q)]. their affected son had a similar k...

Journal: :iranian journal of public health 0
massoumeh tajeran dept. of medical genetics, school of medicine, mashhad university of medical sciences (mums) , mashhad, iran. fatemeh baghbani dept. of medical genetics, school of medicine, mashhad university of medical sciences (mums) , mashhad, iran. mohammad hassanzadeh-nazarabadi dept. of medical genetics, school of medicine, mashhad university of medical sciences (mums) , mashhad, iran.

autism is a complex neuropsychiatric disorder that manifests in early childhood. although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. the main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.we e...

Journal: :Journal of medical genetics 1979
J Q Miller K Willson H Wyandt M A Jaramillo T S McConnell

Four children in the same family have 47, +der (14), t(9;14) (p24;q21). Their mothers are sisters with 46,XX,t(9;14) (p24;q21). Clinical features of the children are similar to those of others reported to have partial 14 trisomy.

Journal: :Journal of medical genetics 1984
B Dallapiccola G Ferranti A Giannotti G Novelli L Pasquini B Porfirio

Mosaic trisomy 14 is described in a patient with severe developmental retardation and congenital malformations. Together with a few previous reports, this case suggests the existence of a syndrome associated with this chromosome imbalance. Hitherto unrecognised manifestations of trisomy 14 mosaicism were, in our patient, abnormalities of the neutrophil nuclei, which consisted of multiple pedunc...

Journal: :Annals of the Rheumatic Diseases 1988

Journal: :Journal of Medical Genetics 1982

Journal: :Clinical linguistics & phonetics 2014
Laura Zampini Paola Zanchi Laura D'Odorico

This study aimed to assess the communicative skills of children and young adults with ring 14 syndrome and linear 14q deletions, investigating the relationships among their language development and their genetic, clinical, psychomotor and behavioural characteristics. Participants were 36 individuals with chromosome 14 aberrations whose parents completed a questionnaire, specifically developed i...

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