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Toplam kayıt 36, listelenen: 11-20
The Fanconi Anemia Group E Gene, Fance, Maps to Chromosome 6P
(Univ Chicago Press, 1999)
Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients ...
A Novel Protein Tyrosine Phosphatase Gene is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (Epm2)
(Oxford Univ Press, 1999)
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like ...
A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9Q34
(Endocrine Soc, 1999)
Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have ...
Successful Bone Marrow Transplantation in a Case Of Griscelli Disease which Presented in Accelerated Phase with Neurological Involvement
(Stockton Press, 1999)
Griscelli disease (GD) is a rare disorder characterized by pigment dilution, immunodeficiency and occurrence of accelerated phase consisting of hemophagocytosis, pancytopenia and neurological manifestations, Allogeneic BMT ...
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (Rdrta2) to 7Q33-34
(Univ Chicago Press, 1999)
Failure of distal nephrons to excrete excess acid results in the "distal renal tubular acidoses" (dRTA). Early childhood features of autosomal recessive dRTA include severe metabolic acidosis with inappropriately alkaline ...
Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development
(Amer Soc Clinical Investigation Inc, 1999)
Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We ...
Loss of Maternal Allele in a Child with Myelodysplastic Syndrome and Monosomy 7
(Wiley-Liss, 1999)
Monosomy 7 or partial deletion of the long arm of chromosome 7 is frequently described in children with myelodysplastic syndrome and acute myeloblastic leukemia, Parental origin of chromosome 7 in children with sporadic ...
Interobserver and Intraobserver Variations in Sonographic Measurement of Thyroid Volume in Children
(Scandinavian University Press, 1999)
Objective: To determine the interobserver and intraobserver variations in sonographic measurement of thyroid volume in children. Design: Thyroid volumes of 30 healthy children were measured by three separate observers, ...
Frontal Lobe Syndrome Reassessed: Comparison Of Patients With Lateral Or Medial Frontal Brain Damage
(British Med Journal Publ Group, 1999)
Examination of mood and behaviour changes after frontal damage may contribute to understanding the functional role of distinct prefrontal areas in depression and anxiety. Depression and anxiety disorders, symptoms, and ...
A Surveillance Study of Antimicrobial Resistance of Gram-Negative Bacteria Isolated From Intensive Care Units in Eight Hospitals in Turkey
(Oxford Univ Press, 1999)
This study was carried out with the participation of eight hospitals in Turkey to determine the frequency of Gram-negative bacteria isolated in intensive care units (ICU) and to compare their resistance rates to selected ...