Micheala Aldred : rechercher sur Z-Library

Micheala A. Aldred, Salim Aftimos, Christine Hall, Katie S. Waters, Rajesh V. Thakker, Richard C. Trembath, Louise Brueton

Année:

2015

Langue:

english

Fichier:

PDF, 574 KB

english, 2015

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 176 KB

english, 2002

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

Christina M. Rigelsky, Constance Jennings, Rainer Lehtonen, Omar A. Minai, Charis Eng, Micheala A. Aldred

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 140 KB

english, 2008

Activating and inactivating mutations in the human GNAS1 gene

Micheala A. Aldred, Richard C. Trembath

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 201 KB

english, 2000

Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension

Rajiv D. Machado, Micheala A. Aldred, Victoria James, Rachel E. Harrison, Bhakti Patel, Edward C. Schwalbe, Ekkehard Gruenig, Bart Janssen, Rolf Koehler, Werner Seeger, Oliver Eickelberg, Horst Olsche

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 315 KB

english, 2006

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

Micheala A. Aldred, Jairam Vijayakrishnan, Victoria James, Florent Soubrier, Miguel A. Gomez-Sanchez, Gunnar Martensson, Nazzareno Galie, Alessandra Manes, Paul Corris, Gerald Simonneau, Marc Humbert,

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 165 KB

english, 2006

Low prevalence ofMYOCmutations in UK primary open-angle glaucoma patients limits the utility of genetic testing

Micheala A. Aldred, Laura Baumber, Alison Hill, Edward C. Schwalbe, Kai Goh, Wojciech Karwatowski, Richard C. Trembath

Journal:

Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 76 KB

english, 2004

Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas

Aldred, Micheala A, Morrison, Carl, Gimm, Oliver, Hoang-Vu, Cuong, Krause, Ulf, Dralle, Henning, Jhiang, Sissy, Eng, Charis

Journal:

Oncogene

Année:

2003

Langue:

english

Fichier:

PDF, 193 KB

english, 2003

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2010

W.B. Coleman, G.J. Tsongalis,Editors, ,Where genetics meets medicine Molecular Diagnostics for the Clinical Laboratorian (1997) Humana Press,New York 0 89603 373 2 x + 390.

Journal:

Trends in Biotechnology

Année:

1997

Langue:

english

Fichier:

PDF, 131 KB

english, 1997

GNAS1 imprinting: the latest twist

Journal:

Trends in Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 18 KB

english, 2002

RNA surprises

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 42 KB

english, 2000

The ABCR of visual impairment

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 183 KB

english, 2000

BMPs in limb development

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 137 KB

english, 1997

Widening the view of glaucoma: Identification of a gene that causes primary open angle glaucoma

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 208 KB

english, 1997

Modifying genes and retinitis pigmentosa

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 217 KB

english, 1998

Therapy for CAG-repeat diseases?

Micheala A Aldred PhD

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 88 KB

english, 1998

Electronic zoo blotting identifies a modifier gene for spinal muscular atrophy

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 55 KB

english, 1998

New light on retinal gene therapy

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 123 KB

english, 1999

Gene therapy for eye cancer?

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 774 KB

english, 1999

Menière’s disease – a genetic imbalance?

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 58 KB

english, 1999

Dominant-negative isoforms modulate phenotype in inherited cardiac arrhythmias

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 166 KB

english, 1999

A cool tumour-suppressor gene

Journal:

European Journal of Haematology

Année:

2000

Langue:

english

Fichier:

PDF, 153 KB

english, 2000

Preclinical development of hybrid cell vaccines for multiple myeloma

Renata Walewska, Iryna Teobald, Debbie Dunnion, Hind Abdulmajed, Micheala Aldred, Jean Sadler, Claire Chapman, Michael Browning

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 819 KB

english, 2007

Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation

Laura E MacConaill, Micheala A Aldred, Xincheng Lu, Thomas LaFramboise

Journal:

BMC Genomics

Année:

2007

Langue:

english

Fichier:

PDF, 339 KB

english, 2007

Analysis of Three Deletion Breakpoints in Xp21.1 and the Further Localization of RP3

John Brown, Katherine L. Dry, Alexander J. Edgar, Fiona E. Pryde, Lee J. Hardwick, Micheala A. Aldred, Douglas H. Lester, Shelagh Boyle, Josseline Kaplan, Jean-Louis Dufier, Meng-Fatt Ho, Anthony M. M

Journal:

Genomics

Année:

1996

Langue:

english

Fichier:

PDF, 352 KB

english, 1996

A Detailed Physical and Transcriptional Map of the Region of Chromosome 20 That Is Deleted in Myeloproliferative Disorders and Refinement of the Common Deleted Region

Anthony J. Bench, Micheala A. Aldred, Sean J. Humphray, Kim M. Champion, James G.R. Gilbert, Fotios A. Asimakopoulos, Panos Deloukas, Rhian Gwilliam, David R. Bentley, Anthony R. Green

Journal:

Genomics

Année:

1998

Langue:

english

Fichier:

PDF, 581 KB

english, 1998

A Physical and Transcript Map Based upon Refinement of the Critical Interval for PPH1, a Gene for Familial Primary Pulmonary Hypertension

Rajiv D. Machado, Michael W. Pauciulo, Neale Fretwell, Colin Veal, Jennifer R. Thomson, Carles Vilariño Güell, Micheala Aldred, Christopher A. Brannon, Richard C. Trembath, William C. Nichols

Journal:

Genomics

Année:

2000

Langue:

english

Fichier:

PDF, 204 KB

english, 2000

Haplotype frequencies of three polymorphisms at the TIMP locus

Micheala A. Aldred, Alan F. Wright

Journal:

Molecular and Cellular Probes

Année:

1994

Fichier:

PDF, 37 KB

1994

Molecular Classification of Parathyroid Neoplasia by Gene Expression Profiling

Carl Morrison, William Farrar, Jeff Kneile, Nita Williams, Yiwen Liu-Stratton, Alan Bakaletz, Micheala A. Aldred, Charis Eng

Journal:

The American Journal of Pathology

Année:

2004

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2004

Pseudohypoparathyroidism: new insight into Gsα

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 17 KB

english, 2001

Homing in on Russell–Silver

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 39 KB

english, 2001

Shedding light on endometrial cancer

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 18 KB

english, 2001

GNAS1 imprinting: the latest twist

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 336 KB

english, 2002

Cleft lip and palate: new genetic clues

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 26 KB

english, 2001

Does ICSI disrupt genomic imprinting?

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 14 KB

english, 2002

Microarray expression profiling and heterozygote identification

Journal: