Zobrazeno 1 - 7
of 7
pro vyhledávání: '"S. B. Fowlow"'
Publikováno v:
Clinical Genetics. 41:266-269
A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri du chat syndrome. Chromosome studies from both peripheral blood and fibrobla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f877fce0fbf2180f60a33f5817b93b6
https://doi.org/10.1111/j.1399-0004.1992.tb03679.x
https://doi.org/10.1111/j.1399-0004.1992.tb03679.x
Publikováno v:
American Journal of Medical Genetics. 35:79-84
Here we report on two additional cases of distal 6q deletions with one case showing a terminal deletion of chromosome 6 (46,XY, del(6)(pter----q26:)) and one case showing an interstitial deletion of chromosome 6 (46,XY, del(6)(pter----q23::q25----qte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02984825d1c4dfa43b73c26b9fc9ff8a
https://doi.org/10.1002/ajmg.1320350115
https://doi.org/10.1002/ajmg.1320350115
Publikováno v:
Human genetics. 86(1)
Sperm chromosome complements were studied in three men who carried reciprocal translocations. A total of 400 sperm were karyotyped after in vitro penetration of hamster eggs: 217 sperm from t(2;9) (q21;p22), 164 from t(4;6)(q28;p23) and 19 from t(7;1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b28a480dd051d60385c7056c613ac41
https://pubmed.ncbi.nlm.nih.gov/2253936
https://pubmed.ncbi.nlm.nih.gov/2253936
Publikováno v:
Clinical genetics. 37(6)
A mother and daughter with an interstitial deletion of the chromosome segment 21q11 to 21q21.3 have similar minor dysmorphism and mild mental retardation. These two patients are compared to others in the literature with deletion of the same region of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0438272457dae8a4f88242c75611be7
https://pubmed.ncbi.nlm.nih.gov/2383928
https://pubmed.ncbi.nlm.nih.gov/2383928
Autor:
T. M. Holmes, W. G. Pearce, J. A. Mackay, S. B. Fowlow, R. B. Lowry, M. H. K. Shokeir, Kenneth Morgan
Publikováno v:
Ophthalmic Paediatrics and Genetics. 8:119-124
Autosomal recessive inheritance of juvenile cataract is described amongst several related sibships of Lehrerleut Hutterites. The main features of the cataract include onset between three and seven years of age; rapid progression to maturity within on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18326a0b5ad2adc9db2d8a00adf0bfa
https://doi.org/10.3109/13816818709028527
https://doi.org/10.3109/13816818709028527
Autor:
D. Ross McLeod, S. B. Fowlow
Publikováno v:
American Journal of Medical Genetics. 34:317-319
We present a case of sacral agenesis, microcephaly, and developmental delay. The pregnancy with this child was complicated by left psoas bursitis that was treated by 18 applications of ultrasound between days 6 and 29 of gestation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ba1fdebd969f20223953eaae8f376b
https://doi.org/10.1002/ajmg.1320340304
https://doi.org/10.1002/ajmg.1320340304
Autor:
C. Friesen, A. K. W. Brownell, A. Elash, R. J. Diewold, S. B. Fowlow, C. G. F. Seagram, R. T. Paasuke
Publikováno v:
Anesthesiology. 58:180-181
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99af0a0449e212eb9d5c84a92694a94d
https://doi.org/10.1097/00000542-198302000-00013
https://doi.org/10.1097/00000542-198302000-00013