Výsledky vyhledávání - "Greenberg, F."

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome

Autor: Nickerson, E, Greenberg, F, Keating, M T, McCaskill, C, Shaffer, L G

To investigate the frequency of deletions of the elastin gene in patients with Williams syndrome (WS), we screened 44 patients by both FISH and PCR amplification of a dinucleotide repeat polymorphism. FISH was performed using cosmids containing eithe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a3b9e06ee1555d66f64c383dfa1c14f4
https://europepmc.org/articles/PMC1801441/

Zobrazit plný text záznamu

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2

Autor: Chen, K S, Gunaratne, P H, Hoheisel, J D, Young, I G, Miklos, G L, Greenberg, F, Shaffer, L G, Campbell, H D, Lupski, J R

The Smith-Magenis syndrome (SMS) appears to be a contiguous-gene-deletion syndrome associated with a proximal deletion of the short arm of chromosome 17 in band p11.2. The spectrum of clinical findings includes short stature, brachydactyly, developme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e251838c2519521e057f5d3f8cb234b8
https://europepmc.org/articles/PMC1801336/

Zobrazit plný text záznamu

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18

Autor: Mewar, R, Kline, A D, Harrison, W, Rojas, K, Greenberg, F, Overhauser, J

Four individuals with partial duplications of the long arm of chromosome 18 were analyzed at the clinical, cytogenetic, and molecular levels. Two of the individuals had duplications of the long arm from 18q21.1-qter because of inheritance of an unbal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::29a3a50a97d75f6706a2dbbbce980c01
https://europepmc.org/articles/PMC1682493/

Zobrazit plný text záznamu

The meiotic stage of nondisjunction in trisomy 21: Determination by using DNA polymorphisms

Publikováno v: Scopus-Elsevier

We have studied DNA polymorphisms at loci in the pericentromeric region on the long arm of chromosome 21 in 200 families with trisomy 21, in order to determine the meiotic origin of nondisjunction. Maintenance of heterozygosity for parental markers i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a614a3ebadf1c798d2e46c2c627cc24e
https://europepmc.org/articles/PMC1684265/

Zobrazit plný text záznamu

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)

Autor: Greenberg, F, Guzzetta, V, Montes de Oca-Luna, R, Magenis, R E, Smith, A C, Richter, S F, Kondo, I, Dobyns, W B, Patel, P I, Lupski, J R

We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::67540a34fee4896c81ef34bf68b2ab20
https://europepmc.org/articles/PMC1686451/

Zobrazit plný text záznamu

Molecular studies of DiGeorge syndrome

Autor: Fibison, W J, Budarf, M, McDermid, H, Greenberg, F, Emanuel, B S

DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::859145fe8fd43faeefa9245676f0c21d
https://europepmc.org/articles/PMC1683603/

Zobrazit plný text záznamu