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E Johnsen

Publications and source records attributed to E Johnsen.

7 recordsLinked to original sources
PubMed1997

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.

Alleles↗
PubMed1993

A note on the utilization of common support activities and relapse following substance abuse treatment.

We examined the relationship between involvement with three common social support activities and abstinence rates among former patients (N = 50) of an inpatient substance abuse treatment facility. Attendance at aftercare meetings and attendance at Alcoholics Anonymous or Narcotics Anonymous meetings were significantly related to posttreatment abstinence, whereas family participation in recovery did not, by itself, significantly predict continued abstinence. Examining these factors together, we found that the abstinence rate increased linearly as more supports were used.

Adolescent↗
PubMed1986

Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.

Fragile-X mental retardation (FRAX-MR) is one of the more common X-linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27-Xqter as probes, we have investigated Swedish families with FRAX-MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study is presented.

DNA↗