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The occipital dysplasia in the Papillion dog

100%

Janeczek M. , Chroszcz A. , Pospieszny N.

Electronic Journal of Polish Agricultural Universities. Series Veterinary Medicine

2010

tom 13

nr 1

Velocardiofacial syndrome [VCFS]: an important syndrome to recognize, caused by a microdeletion of chromosome 22q11

100%

Devriendt K. , Swillen A. , Frints S. G. M. , Fryns J. P.

Journal of Applied Genetics

1997

tom 38

nr 1

The phenotypic heterogeneity of the velocardiofacial syndrome (VCFS) or Shprintzen syndrome caused by a chromosomal 22q11 deletion will be discussed. The acronym ’CATCH22’ (Cardiac defects - Abnormal facies - Thymic hypoplasia - Cleft palate - Hypocalcaemia) has been suggested to indicate the associated phenotype. The variable clinical phenotype was previously recognized as DiGcorge syndrome and Shprintzen syndrome, but both are caused by a microdeletion of chromosome 22q11. However, most patients show only partial expression with mild clinical features. Through a sensitive genetic investigation called FISH (Fluorescence in situ hybridization) a diagnostic test of VCFS has become routinely possible, leading to an increased number of patients that are diagnosed. Early diagnosis is very important to recognize associated problems, to initiate adequate treatment and to provide necessary genetic counselling.

Cerebellar abnormality in autism: a nonspecific effect of early brain damage?

100%

Ciesielski K. T. , Knight J. E.

Acta Neurobiologiae Experimentalis

1994

tom 54

nr 2

Autoimmunity caused by T cells escaping negative selection

80%

Rolink A.

Archivum Immunologiae et Therapiae Experimentalis

2011

tom 59

nr 5

Flow cytometric analysis of CD55 and CD59 expression on blood cells in paroxysmal nocturnal haemoglobinuria

80%

Dworacki G. , Sikora J. , Mizera-Nyczak E. , Trybus M. , Mozer-Lisewska I. , Czyz A. , Zeromski J.

Folia Histochemica et Cytobiologica

2005

tom 43

nr 2