Zobrazeno 1 - 10 of 74 pro vyhledávání: '"J J Hoo"'
1
Abelian difference sets with the symmetric difference property
Autor: James A. Davis, Connor Kissane, Ziming Liu, Kartikey Sharma, Yiwei Sun, Calvin Reedy, J. J. Hoo, Ken W. Smith
Publikováno v: Designs, Codes and Cryptography. 89:517-523
A $$(v,k,\lambda )$$ symmetric design is said to have the symmetric difference property (SDP) if the symmetric difference of any three blocks is either a block or the complement of a block. The designs associated to the symplectic difference sets int
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc44c67797ceac732eb872c7d3ab6f34
https://doi.org/10.1007/s10623-020-00829-5
Zobrazit plný text záznamu
2
Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters
Autor: C. C. Lin, R. B. Lowry, R. H. A. Haslam, J. J. Hoo
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
Zobrazit plný text záznamu
3
A pseudoisochromosome 18q and an isodicentric chromosome 18*
Autor: D. R. McLeod, Anne Robertson, J. J. Hoo, Nancy Williamson, Cynthia Floore, Iris Samuel, G. Hoganson
Publikováno v: Clinical Genetics. 35:450-454
A case of pseudoisochromosome 18q of prezygotic origin and a case of isodicentric chromosome 18 of postzygotic origin are presented to validate the differentiation between a true isochromosome and a pseudoisochromosome. This differentiation may be us
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b843c1a130ef18b6f67b40bb3dbefb
https://doi.org/10.1111/j.1399-0004.1989.tb02971.x
Zobrazit plný text záznamu
5
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype
Autor: AE Shrimpton, Constance K. Stein, J J Hoo, BR Braddock, L L Thomson
Publikováno v: Clinical Genetics. 66:537-544
A minority of the reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO)/pseudopseudohypoparathyroidism and have only mild-to-moderate mental retardation. Our molecular and cytogenetic fluorescence in si
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5b41e551705e14c8df347ea0d7943ecc
https://doi.org/10.1111/j.1399-0004.2004.00363.x
Zobrazit plný text záznamu
6
β-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients
Autor: Willy Lissens, J J Hoo, R. Vervoort, M. R. Islam, L A Valentino, William S. Sly
Publikováno v: Human Genetics. 98:281-284
Mucopolysaccharidosis type VII (MPS VII, Sly syndrome) is an autosomal recessively inherited lysosomal storage disease caused by a deficiency in beta-glucuronidase. We identified and studied a novel allele containing two C-to-T transitions resulting
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fe4953f153914d70a9d64f8b8c9bbf
https://doi.org/10.1007/s004390050207
Zobrazit plný text záznamu
7
Chromosome aberrations and oncogene alterations in two new breast tumor cell lines
Autor: R. Sasi, S. Shiferaw, J. J. Hoo, T. Tainaka, Chyi-Chyang Lin, Iris Samuel
Publikováno v: Cancer Genetics and Cytogenetics. 51:239-254
Two new breast tumor cell lines (UISO-BC-1 and UISO-BC-2) have been established from pleural effusions obtained from patients with confirmed diagnosis of breast cancer. Cytogenetic investigation shows several numerical and structural aberrations in b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b5f1681dddf1fe72cb7b369a1141f3
https://doi.org/10.1016/0165-4608(91)90137-j
Zobrazit plný text záznamu
8
Chromosome 6q deletions: A report of two additional cases and a review of the literature
Autor: D. Samcoe, I. Burgess, D. R. McLeod, A. Robertson, J. J. Hoo, S. B. Fowlow
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
Zobrazit plný text záznamu
9
Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene
Autor: B J, LaDine, J A, Simmons, A E, Shrimpton, J J, Hoo
Publikováno v: American journal of medical genetics. 99(3)
A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other join
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::feacc6fd830b35b330dbe8e4b1d96097
https://pubmed.ncbi.nlm.nih.gov/11241498
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje