Darmanian, A. P.: search on Z-Library

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1

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances

Art Daniel, Elizabeth Baker, Nicole Chia, Eric Haan, Paul Malafiej, Lyn Hinton, Nigel Clarke, Lesley Adès, Artur Darmanian, David Callen

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

2

An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies

Art Daniel, Artur Darmanian, Greg Peters, Linda Goodwin, Jason R. Hort

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 156 KB

english, 2007

3

Three different origins for apparent triploid/diploid mosaics

Art Daniel, Zhanhe Wu, Artur Darmanian, Felicity Collins, Julianne Jackson

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 72 KB

english, 2003

4

Issues arising from the prenatal diagnosis of some rare trisomy mosaics—the importance of cryptic fetal mosaicism

Art Daniel, Zhanhe Wu, Artur Darmanian, Paul Malafiej, Varsha Tembe, Greg Peters, Craig Kennedy, Lesley Adès

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 145 KB

english, 2004

5

Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region

MT Gabbett, GB Peters, JM Carmichael, AP Darmanian, FA Collins

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 193 KB

english, 2008

6

Two arginine rich domains in the p14ARF tumour suppressor mediate nucleolar localization

Rizos, H, Darmanian, A P, Mann, G J, Kefford, R F

Journal:

Year:

2000

Language:

english

File:

PDF, 314 KB

english, 2000

7

A melanoma-associated germline mutation in exon 1β inactivates p14ARF

Darmanian, Artur P, Jiménez, Loli, Milà, Montserrat, Kefford, Richard F, Rizos, Helen, Puig, Susana, Badenas, Cèlia, Malvehy, Josep

Journal:

Year:

2001

Language:

english

File:

PDF, 201 KB

english, 2001

8

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Ellaway, Carolyn J, Ho, Gladys, Bettella, Elisa, Knapman, Alisa, Collins, Felicity, Hackett, Anna, McKenzie, Fiona, Darmanian, Artur, Peters, Gregory B, Fagan, Kerry, Christodoulou, John

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 322 KB

english, 2013

9

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

Tan, T Y, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Kirk, E P, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, J B, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G

Journal:

Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 620 KB

english, 2009

10

Mutations in the INK4a/ARF Melanoma Susceptibility Locus Functionally Impair p14ARF

Rizos, H., Darmanian, A. P., Holland, E. A., Mann, G. J., Kefford, R. F.

Journal:

Journal of Biological Chemistry

Year:

2001

Language:

english

File:

PDF, 1.15 MB

english, 2001

11

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

White, Rose, Ho, Gladys, Schmidt, Swetlana, Scheffer, Ingrid E., Fischer, Alexandra, Yendle, Simone C., Bienvenu, Thierry, Nectoux, Juliette, Ellaway, Carolyn J., Darmanian, Artur, Tong, XingZhang, Cl

Journal:

Twin Research and Human Genetics

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

12

Paternally Inherited Submicroscopic Duplication at 11p15.5 Implicates Insulin-like Growth Factor II in Overgrowth and Wilms' Tumorigenesis

Algar, E. M., St. Heaps, L., Darmanian, A., Dagar, V., Prawitt, D., Peters, G. B., Collins, F.

Journal:

Cancer Research

Year:

2007

Language:

english

File:

PDF, 411 KB

english, 2007

13

A Cost-Effective, High-Performance Approach to Critical Care Testing

Weilert, Michael, Workman, Ronald D., Danaye-Elmi, Manijeh, Darmanian, Christine

Journal:

Laboratory Medicine

Year:

1999

Language:

english

File:

PDF, 6.41 MB

english, 1999

14

Shared Governance Empowers Laboratorians

Workman, Ronald D., Darmanian, Christine M., Weilert, Michael, Hill, Bradford T.

Journal:

Laboratory Medicine

Year:

1995

Language:

english

File:

PDF, 18.59 MB

english, 1995

15

Analysis of CDKN2A. CDKN2B, P16??, P21 and CDK4 in melanoma cells

Rizos, H, Darmanian, A, Shannon, J A, Kefford, R F, Mann, G J

Journal:

Melanoma Research

Year:

1997

File:

PDF, 215 KB

1997

16

Multiple abnormalities of the p16INK4a-pRb regulatory pathway in cultured melanoma cells

Rizos, H., Darmanian, A. P., Indsto, J. O., Shannon, J. A., Kefford, R. F., Mann, G. J.

Journal:

Melanoma Research

Year:

1999

File:

PDF, 747 KB

1999

17

Validation of a Chromosomal Microarray for Prenatal Diagnosis Using a Prospective Cohort of Pregnancies with Increased Risk for Chromosome Abnormalities

Wright, Dale, Carey, Louise, Battersby, Siobhan, Nguyen, Thuy, Clarke, Melanie, Nash, Benjamin, Gulesserian, Elee, Cross, Jill, Darmanian, Artur

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2016

Language:

english

File:

PDF, 159 KB

english, 2016

18

Fibrosarcomatous variant of dermatofibrosarcoma protuberans showing COL1A1-PDGFB gene fusion, detected using a novel and disease-specific RT-PCR protocol

Mahajan, Hema, Sharma, Raghwa, Darmanian, Artur, Peters, Greg B.

Journal:

Year:

2010

Language:

english

File:

PDF, 962 KB

english, 2010

19

956

Der-Nigoghossian, Caroline, Dzierba, Amy, Muir, Justin, Wahab, Romina, Brodie, Daniel, Schicchi, John, Darmanian, Anita, Yip, Natalie

Journal:

Critical Care Medicine

Year:

2018

File:

PDF, 51 KB

2018