Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Everett W. Lovrien"'
Publikováno v:
Human Genetics. 87:177-182
Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b2ab7094314e4686bc41956e0b4e9d5
https://doi.org/10.1007/bf00204177
https://doi.org/10.1007/bf00204177
Autor:
Dante M. LaMorticella, William H. Murphey, Patricia L. Kramer, Michael Litt, Everett W. Lovrien, Richard G. Weleber
Publikováno v:
Human molecular genetics. 7(3)
Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02617e98af320dfe4b57365b01dbe1b
https://pubmed.ncbi.nlm.nih.gov/9467006
https://pubmed.ncbi.nlm.nih.gov/9467006
Autor:
Dante M. LaMorticella, Patricia L. Kramer, Roque D. Carrero-Valenzuela, Everett W. Lovrien, Irene H. Maumenee, Thomas N. Mitchell, Jennifer Yount, Michael Litt
Publikováno v:
Genomics. 35(3)
Congenital cataracts are one of the most common major eye abnormalities and often lead to blindness in infants. At least a third of all cases are familial. Within this group, highly penetrant, autosomal dominant forms of congenital cataracts (ADCC) a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0623b02c78ddbdeb27b85803ad3e5eb8
https://pubmed.ncbi.nlm.nih.gov/8812489
https://pubmed.ncbi.nlm.nih.gov/8812489
Autor:
Rodney K. Beals, Everett W. Lovrien
Publikováno v:
Journal of pediatric orthopedics. 12(3)
A syndrome of capillary hemangiomas of the lower limbs associated with decreased circumference and length of the limb is reported. Hypotrophy of the limb in this syndrome is slowly progressive and surgery is usually required to achieve limb-length eq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea212129d7108a5c54652766cc76f43
https://pubmed.ncbi.nlm.nih.gov/1573010
https://pubmed.ncbi.nlm.nih.gov/1573010
Publikováno v:
American journal of medical genetics. 37(1)
We studied the performance of 34 as yet undiagnosed individuals known to be at risk of Huntington disease (HD), on a maximum-effort oral-motor task. Results were compared with those from a normal control group matched for age and sex. The at-risk-of-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37563e61ffce2fd13130fd598944a158
https://pubmed.ncbi.nlm.nih.gov/2146877
https://pubmed.ncbi.nlm.nih.gov/2146877
Publikováno v:
Human Genetics. 37:7-16
Chromosome 21 fluorescent heteromorphisms were studied in 42 patients with Down's syndrome, their parents and their siblings. Included in this number are two instances of an aunt and niece affected with trisomy 21, and one of affected siblings. One c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79d83b9443a6fffaa3c089105efb2b38
https://doi.org/10.1007/bf00293766
https://doi.org/10.1007/bf00293766
Publikováno v:
American Journal of Medical Genetics. 15:47-55
Blood test results, using standard procedures, failed to exclude the alleged father as the biological father of a child in a case of disputed paternity. Using 21 different systems, the probability of exclusion for the man was 98.19%, and the probabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfdc0e6af698d818e0be193e036f9a5b
https://doi.org/10.1002/ajmg.1320150106
https://doi.org/10.1002/ajmg.1320150106
Publikováno v:
Annals of Human Genetics. 40:191-196
Under the assumption that benign ovarian teratomas in man arise parthenogenically from a germ cell by suppression of the second meiotic division, the distance of a gene from its centromere can be estimated from the observed proportion of heterozygous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e0d592b5dbf67e122d7db1d1901fc5
https://doi.org/10.1111/j.1469-1809.1976.tb00179.x
https://doi.org/10.1111/j.1469-1809.1976.tb00179.x
Autor:
Lawrence J. Wolff, Everett W. Lovrien
Publikováno v:
Pediatrics. 70:431-436
Nine patients with hemophilia A suffered 16 fractures. Four patients had severe hemophilia (factor VIII < 1%) and five had moderate or mild hemophilia (factor VIII between 4% and 25%). Two patients developed skeletal pseudotumors after their fracture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd60fc469c2991325e61b2e87b25a299
https://doi.org/10.1542/peds.70.3.431
https://doi.org/10.1542/peds.70.3.431
Autor:
Everett W. Lovrien, Herman E. Wyandt, T. Bergstrom, Frederick Hecht, K. M. Overton, R. E. Magenis
Publikováno v:
Humangenetik. 27:91-109
17 chromosomally unbalanced patients, their siblings and parents were tested for HL-A types and for up to 25 other polymorphic systems to determine whether there was gain or loss of an allele concurrent with the gain or loss of chromosome material. 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6aa299c36b500d4d42f7bdb82442af2e
https://doi.org/10.1007/bf00273324
https://doi.org/10.1007/bf00273324