Zobrazeno 1 - 10
of 82
pro vyhledávání: '"R B, Lowry"'
Publikováno v:
Clinical Genetics. 35:276-281
A case of an interstitial deletion of chromosome 13, identified as 46,XY,del(13)(q22q31), is reported in a child with psychomotor retardation, prominent low-set ears, epicanthus, hypertelorism, broad nasal bridge, hypoplastic fifth fingers and abnorm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0fd589141785b554dc461170e9cced
https://doi.org/10.1111/j.1399-0004.1989.tb02943.x
https://doi.org/10.1111/j.1399-0004.1989.tb02943.x
Publikováno v:
Clinical Genetics. 27:420-425
Two sisters with similar clinical features are described. Their clinical manifestations include mental retardation, delayed speech development, low percentiles for height, weight and head circumference, dysmorphic ears, cubitus valgus, pseudoclubbing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719f0d0a216cf622881f745a39a7afe4
https://doi.org/10.1111/j.1399-0004.1985.tb02287.x
https://doi.org/10.1111/j.1399-0004.1985.tb02287.x
Publikováno v:
Clinical Genetics. 29:523-529
A father and daughter with apparently unique clinical findings are described. The findings include persistent Wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia. Apparently it is an autosomal dominant trait. Alt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc3888ee29f9cafe99b91ee0515165e9
https://doi.org/10.1111/j.1399-0004.1986.tb00554.x
https://doi.org/10.1111/j.1399-0004.1986.tb00554.x
Autor:
R. B. Lowry, R. McLeod
Publikováno v:
Clinical Genetics. 9:77-80
The incidence of albinism in British Columbia in livebirths between 1952 and 1970 was 1/20,600. Using the hairbulb incubation test, incidences of 1/67,800 for Type I albinism and 1/35,700 for Type II albinism were also calculated.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd1e86ff6340a4ac067f0f6121e566a1
https://doi.org/10.1111/j.1399-0004.1976.tb01552.x
https://doi.org/10.1111/j.1399-0004.1976.tb01552.x
Autor:
R. B. Lowry, M. R. Kliman
Publikováno v:
Clinical Genetics. 9:285-288
Two families were ascertained with multiple cases of hypospadias. In one family, four generations were reported to be affected and this was proven in three generations. In the second family, a father and two sons were affected. We suggest that domina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50f35489311650be65d6f49600394997
https://doi.org/10.1111/j.1399-0004.1976.tb01576.x
https://doi.org/10.1111/j.1399-0004.1976.tb01576.x
Autor:
R B, Lowry
Publikováno v:
Canadian family physician Medecin de famille canadien. 31
Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9c6f031f0bd3a44ad673824a0d148d79
https://pubmed.ncbi.nlm.nih.gov/21274150
https://pubmed.ncbi.nlm.nih.gov/21274150
Publikováno v:
Clinical Genetics. 43:117-121
A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4a9e23c475b01cee7a44951aab9e97c9
https://doi.org/10.1111/j.1399-0004.1993.tb04434.x
https://doi.org/10.1111/j.1399-0004.1993.tb04434.x
Autor:
G. Rizzoni, R. Tonlorenzi, Francesca Vitelli, Lucia Pucci, Mario Ventura, Elisa Rossi, Clifford E. Kashtan, Ilaria Meloni, Alessandra Renieri, R. B. Lowry, Barbara R. Pober
Publikováno v:
Università degli Studi di Siena-IRIS
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen.1–3 Contiguous gene syndromes are phenotypica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26f74647cd08fd3297bfa90488831149
http://hdl.handle.net/11365/19048
http://hdl.handle.net/11365/19048
Publikováno v:
Chronic diseases in Canada. 22(2)
Vital statistics and other administrative data are becoming an increasingly important source for epidemiologic research and surveillance. This study, the first in Canada, evaluated the usefulness of birth registry data on congenital anomalies in Albe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1373ad657a46d1327d612ea91bdf79b
https://pubmed.ncbi.nlm.nih.gov/11525721
https://pubmed.ncbi.nlm.nih.gov/11525721