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Pregled bibliografske jedinice broj: 677953

HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE


Guilherme RS; Klein E; Hamid AB, Bhatt S; Volleth M; Polityko A; Kulpanovich A; Dufke A; , AlbrechtB; Morlot S; Brečevic Lukrecija; Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*
HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE // Balkan Journal of Medical Genetics, 16 (2013), 1; 13-19 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 677953 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE

Autori
Guilherme RS ; Klein E ; Hamid AB, Bhatt S ; Volleth M ; Polityko A ; Kulpanovich A ; Dufke A ; , AlbrechtB ; Morlot S ; Brečevic Lukrecija ; Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*

Izvornik
Balkan Journal of Medical Genetics (1311-0160) 16 (2013), 1; 13-19

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Ring chromosomes; FISH; Genotype-phenotype correlations

Sažetak
Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.

Izvorni jezik
Engleski

Znanstvena područja
Biologija



POVEZANOST RADA


Projekti:
108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Lukrecija Brečević (autor)


Citiraj ovu publikaciju:

Guilherme RS; Klein E; Hamid AB, Bhatt S; Volleth M; Polityko A; Kulpanovich A; Dufke A; , AlbrechtB; Morlot S; Brečevic Lukrecija; Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*
HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE // Balkan Journal of Medical Genetics, 16 (2013), 1; 13-19 (međunarodna recenzija, članak, znanstveni)
Guilherme RS, Klein E, Hamid AB, B., Volleth M, Polityko A, Kulpanovich A, Dufke A, , A., Morlot S, Brečevic Lukrecija & Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1* (2013) HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE. Balkan Journal of Medical Genetics, 16 (1), 13-19.
@article{article, author = {Hamid AB, Bhatt S and , AlbrechtB}, year = {2013}, pages = {13-19}, keywords = {Ring chromosomes, FISH, Genotype-phenotype correlations}, journal = {Balkan Journal of Medical Genetics}, volume = {16}, number = {1}, issn = {1311-0160}, title = {HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE}, keyword = {Ring chromosomes, FISH, Genotype-phenotype correlations} }
@article{article, author = {Hamid AB, Bhatt S and , AlbrechtB}, year = {2013}, pages = {13-19}, keywords = {Ring chromosomes, FISH, Genotype-phenotype correlations}, journal = {Balkan Journal of Medical Genetics}, volume = {16}, number = {1}, issn = {1311-0160}, title = {HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE}, keyword = {Ring chromosomes, FISH, Genotype-phenotype correlations} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus





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