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在“Elsevier”中，命中：1,015条，耗时：0.0899607 秒

1.An idic(15) associated with POF (premature ovarian failure): Molecular cytogenetic definition of a case and review of the literature

作者：Veronica Bertini^a ; David Viola^b ; Paolo Vitti^b ; Paolo Simi^a ; Angelo Valetto^a ; ^{a.valetto@ao-pisa.toscana.it}

关键词：15q ; long arm of chromosome 15 ; 17OHP ; 17 hydroxyprogesterone ; ALUI ; restriction enzyme ALUI ; CGH ; comparative genomic hybridization ; CR1 ; critical region 1 ; CR2 ; critical region 2 ; Cy3 ; cyanine 3 ; Cy5 ; cyanine 5 ; DA-DAPI ; distamycin A-4&prime ; 6-diamidin

刊名：Gene

出版年：2012

2.Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype-phenotype correlation

作者：Maria Piccione^a ; ^{piccionemaria@libero.it} ; Ettore Piro^a ; ¹ ; ^{ettore.piro@unipa.it} ; Francesca Serraino^a ; ¹ ; ^{fraserraino@hotmail.com} ; Simona Cavani^b ; ² ; ^{simona.cavani@galliera.it} ; Roberto Ciccone^c ; ³ ; ^{roberto.ciccone@unipv.it} ; Michela Malacarne^b ; ² ; ^{michela.malacarne@galliera.it} ; Mauro Pierluigi^b ; ² ; ^{mauro.pierluigi@galliera.it} ; Marianna Vitaloni^c ; ³ ; ^{marianna.vitaloni@unipv.it} ; Orsetta Zuffardi^c ; ³ ; ^{zuffardi@unipv.it} ; Giovanni Corsello^a ; ⁴ ; ^{giocors@aliceposta.it}

关键词：Array CGH ; Developmental delay ; Dysmorphic features ; Microdeletion 2p15p16.1 syndrome

刊名：European Journal of Medical Genetics

出版年：2012

3.A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems

作者：Henedina Antunes^a ; ^b ; ^f ; ^{henedinaantunes@gmail.com} ; Jean-Pierre Gonç ; alves^a ; ^c ; Esmeralda Silva^d ; Natá ; lia Teles^e

关键词：IUGR ; intrauterine growth retardation ; PEG ; percutaneous endoscopic gastrostomy ; aCGH ; array comparative genomic hybridization ; UTI ; urinary tract infection ; VUR ; vesicoureteral reflux ; 99mTc-DMSA ; technetium-99m-labeled dimercaptosuccinic acid

刊名：Gene

出版年：2012

4.Mitotic chromosome condensation in vertebrates

作者：Paola Vagnarelli ^{P.Vagnarelli@ed.ac.uk}

关键词：Chromosomes ; Condensation ; Condensin ; Cohesin ; Topoisomerase II ; Histones

刊名：Experimental Cell Research

出版年：2012

5.Jumping translocation of 15q24-qter resulting in partial trisomy: A case report

作者：Má ; rta Czakó ; ; ^{marta.r.czako@aok.pte.hu} ; Kinga Hadzsiev ^{kinga.hadzsiev@aok.pte.hu} ; Bé ; la Melegh ^{bela.melegh@aok.pte.hu} ; Gyö ; rgy Kosztolá ; nyi ^{gyorgy.kosztolanyi@aok.pte.hu}

关键词：JT ; jumping translocation ; FISH ; fluorescence in situ hybridization ; SNRPN ; small nuclear ribonucleoprotein polypeptide N (SNRPN) gene ; WCP ; whole chromosome painting FISH probe ; IT ; interstitial telomeric sequence(s) ; ST ; subtelomeric FISH probe

刊名：Gene

出版年：2012

6.Targeted BIRC5 silencing using YM155 causes cell death in neuroblastoma cells with low ABCB1 expression

作者：Fieke Lamers^a ; Linda Schild^a ; Jan Koster^a ; Rogier Versteeg^a ; Huib N. Caron^b ; Jan J. Molenaar^a ; ^{j.j.molenaar@amc.uva.nl}

关键词：Neuroblastoma ; BIRC5 ; Apoptosis ; YM155 ; ABCB1 ; Cancer

刊名：European Journal of Cancer

出版年：2012

7.A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA

作者：Geert Vandeweyer^a ; Nathalie Van der Aa^a ; Berten Ceulemans^b ; Bregje W.M. van Bon^c ; Liesbeth Rooms^a ; R. Frank Kooy^a ; ^{frank.kooy@ua.ac.be}

关键词：West Syndrome ; Infantile spasms ; t(2 ; 6)(p15 ; p22.3) ; BX118339 ; lnc-RNA

刊名：Epilepsy Research

出版年：2012

8.A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene

作者：Anna Diana^a ; ¹ ; ^{diana_anna@libero.it} ; Riccardina Tesse^a ; ¹ ; Angela M. Polizzi^a ; Teresa Santostasi^a ; Antonio Manca^a ; Giuseppina Leonetti^a ; Manuela Seia^b ; Luigi Porcaro^b ; Luciano Cavallo^a

关键词：CF ; cystic fibrosis ; CFTR ; cystic fibrosis transmembrane conductance regulator ; MI ; meconium ileus ; PI ; pancreatic insufficiency ; UPD7 ; uniparental disomy for chromosome 7 ; RDB ; reverse dot blot ; DGGE ; denaturing gradient gel electrophoresis ; PCR ; polymer

刊名：Gene

出版年：2012

9.A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cancer risk in a Chinese population

作者：Jiaoyang Yin^a ; ^b ; ^{yinjyf@yahoo.com.cn} ; Ulla Vogel^c ; Yegang Ma^d ; Huiwen Wang^e ; Chunhong Wang^a ; ^b ; Duohong Liang^e ; Li Yue^f ; Jian Ma^a ; ^b ; Xinxin Li^a ; ^b

关键词：Chromosome 19q13.3 ; PPP1R13L ; CD3EAP and ERCC1 ; High-risk diplotype ; Lung cancer ; Chinese

刊名：Lung Cancer

出版年：2012

10.Analysis using fish of sperm and embryos from two carriers of rare rob(13;21) and rob(15;22) robertsonian translocation undergoing PGD

作者：Izabel Bernicot^b ; Anouck Schneider^b ; Alexandra Mace^b ; Samir Hamamah^a ; Bernard Hedon^c ; Franck Pellestor^b ; Tal Anahory^a ; ^b ; ^{t-anahory@chu-montpellier.fr}

关键词：FISH ; PGD ; Rare Robertsonian translocation ; Spermatozoa ; Embryos

刊名：European Journal of Medical Genetics

出版年：2012

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