Allen Bale

Allen Bale

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Allen Bale

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Clinical utility of genomic analysis in adults with idiopathic liver disease.

J Hepatol 2019 Jun 15;70(6):1214-1221. Epub 2019 Apr 15.

Department of Internal Medicine, Section of Digestive Diseases, Yale School of Medicine, New Haven, CT, USA; Department of Pathology, Yale School of Medicine, New Haven, CT, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01688278193011
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http://dx.doi.org/10.1016/j.jhep.2019.01.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6526061PMC
June 2019

TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.

Am J Kidney Dis 2018 Dec 22;72(6):895-899. Epub 2018 Jun 22.

Department of Internal Medicine, Division of Nephrology, Yale University School of Medicine, New Haven, CT.

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http://dx.doi.org/10.1053/j.ajkd.2018.05.006DOI Listing
December 2018

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

Eur J Med Genet 2018 Nov 12. Epub 2018 Nov 12.

Pediatric Genomics Discovery Program, Department of Pediatrics, Section of Critical Care Medicine, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183016
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http://dx.doi.org/10.1016/j.ejmg.2018.11.008DOI Listing
November 2018

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Eur J Med Genet 2018 Oct 6. Epub 2018 Oct 6.

Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183008
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http://dx.doi.org/10.1016/j.ejmg.2018.10.003DOI Listing
October 2018

The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.

Am J Gastroenterol 2018 Mar 27;113(3):376-383. Epub 2018 Feb 27.

Department of Pediatrics, Section of Endocrinology, Yale School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1038/ajg.2018.1DOI Listing
March 2018

Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications.

Aorta (Stamford) 2018 Feb 27;6(1):13-20. Epub 2018 Jul 27.

Department of Surgery, Section of Cardiac Surgery, Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1055/s-0038-1639612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136681PMC
February 2018

Body mass index, height and early-onset basal cell carcinoma in a case-control study.

Cancer Epidemiol 2017 02 28;46:66-72. Epub 2016 Dec 28.

Yale School of Public Health, New Haven, CT, 06520, United States; Yale Cancer Center, New Haven, CT, 06520, United States. Electronic address:

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http://dx.doi.org/10.1016/j.canep.2016.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272867PMC
February 2017

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Circ Cardiovasc Genet 2017 Feb;10(1)

From the Division of Cardiovascular Medicine (S.B.S., E.S., L.S., M.D.A.Z., B.A., J.G.A., M.M., D.J., A.M.), Yale Program for Cardiovascular Genetics (S.B.S., E.S., L.S., F.H.-S., A.M.), Department of Genetics, Yale School of Medicine, New Haven, CT (D.D., A.E.B., R.P.L., A.M.); Division of Cardiovascular Medicine, Department of Radiology (S.B.S.) and Division of Cardiac Imaging (S.B.S.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA; and Key Laboratory of Clinical Trail Research in Cardiovascular Drugs, Ministry of Health Cardiovascular Institute, Fu Wai Hospital, CAMS and PUMC, Beijing, China (Y.J.).

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https://www.ahajournals.org/doi/10.1161/CIRCGENETICS.116.001
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http://dx.doi.org/10.1161/CIRCGENETICS.116.001573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245580PMC
February 2017

Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.

Aorta (Stamford) 2017 Feb 1;5(1):11-20. Epub 2017 Feb 1.

Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.12945/j.aorta.2017.17.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570562PMC
February 2017

Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic Lateral Sclerosis.

Pediatr Neurol 2016 11 24;64:83-86. Epub 2016 Aug 24.

Children's Medical Center, University of Connecticut, Farmington, Connecticut. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.013DOI Listing
November 2016

Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma.

Cancer Genet 2016 06 4;209(6):251-7. Epub 2016 May 4.

Department of Surgery, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2016.05.065DOI Listing
June 2016

Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.

Genet Res (Camb) 2016 Mar 7;98:e5. Epub 2016 Mar 7.

Department of Genetics,Yale School of Medicine,New Haven,CT,USA.

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http://dx.doi.org/10.1017/S0016672316000021DOI Listing
March 2016

Family history of skin cancer is associated with early-onset basal cell carcinoma independent of MC1R genotype.

Cancer Epidemiol 2015 Dec 14;39(6):1078-83. Epub 2015 Sep 14.

Yale School of Public Health, New Haven, CT 06520, United States; Yale Cancer Center, New Haven, CT 06520, United States. Electronic address:

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http://dx.doi.org/10.1016/j.canep.2015.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4679454PMC
December 2015

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.

Ann Thorac Surg 2015 Nov 15;100(5):1604-11. Epub 2015 Jul 15.

Aortic Institute at Yale-New Haven, Yale University School of Medicine, New Haven, Connecticut. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00034975150073
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http://dx.doi.org/10.1016/j.athoracsur.2015.04.106DOI Listing
November 2015

The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report.

Yale J Biol Med 2015 Jun 1;88(2):181-5. Epub 2015 Jun 1.

Section of Medical Oncology, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut ; Cancer Genetics and Prevention Program, Yale School of Medicine/Smilow Cancer Hospital, New Haven, Connecticut.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445439PMC
June 2015

A common variant in the MTNR1b gene is associated with increased risk of impaired fasting glucose (IFG) in youth with obesity.

Obesity (Silver Spring) 2015 May;23(5):1022-9

Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Endocrinology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, People's Republic of China.

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http://dx.doi.org/10.1002/oby.21030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414047PMC
May 2015

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

J Hepatol 2014 Nov 10;61(5):1056-63. Epub 2014 Jul 10.

Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, United States; Digestive Diseases Section, Yale University School of Medicine, New Haven, CT, United States; Department of Pediatrics, Gastroenterology-Hepatology Section, Yale University School of Medicine, New Haven, CT, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2014.06.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203706PMC
November 2014

Novel gene identified in an exome-wide association study of tanning dependence.

Exp Dermatol 2014 Oct;23(10):757-9

Yale School of Public Health, New Haven, CT, USA; Yale Cancer Center, New Haven, CT, USA.

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http://dx.doi.org/10.1111/exd.12503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204712PMC
October 2014

Systemic glucocorticoid use and early-onset basal cell carcinoma.

Ann Epidemiol 2014 Aug 22;24(8):625-7. Epub 2014 May 22.

Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT; Yale Cancer Center, New Haven, CT. Electronic address:

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http://dx.doi.org/10.1016/j.annepidem.2014.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4119504PMC
August 2014

Tea, coffee, and caffeine and early-onset basal cell carcinoma in a case-control study.

Eur J Cancer Prev 2014 Jul;23(4):296-302

aDepartments of Chronic Disease Epidemiology and Biostatistics, Yale School of Public Health bYale Cancer Center cDepartments of Dermatology and Surgery dDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut eDepartment of Neurological Surgery fDepartment of Epidemiology and Biostatistics, University of California, San Francisco (UCSF), San Francisco, California, USA.

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http://pdfs.journals.lww.com/eurjcancerprev/2014/07000/Tea,_
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/CEJ.0000000000000037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059399PMC
July 2014

Indoor tanning and tanning dependence in young people after a diagnosis of basal cell carcinoma.

JAMA Dermatol 2013 Sep;149(9):1110-1

Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut2Yale Cancer Center, New Haven, Connecticut.

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http://dx.doi.org/10.1001/jamadermatol.2013.5104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782995PMC
September 2013

The promise and pitfalls of genomics-driven cancer medicine.

Virtual Mentor 2013 Aug 1;15(8):681-6. Epub 2013 Aug 1.

Assistant professor of medicine at Yale School of Medicine in New Haven, Connecticut.

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http://dx.doi.org/10.1001/virtualmentor.2013.15.8.stas1-1308DOI Listing
August 2013

Indoor tanning and risk of early-onset basal cell carcinoma.

J Am Acad Dermatol 2012 Oct 9;67(4):552-62. Epub 2011 Dec 9.

Yale School of Public Health, New Haven, Connecticut 06520-8034, USA.

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http://dx.doi.org/10.1016/j.jaad.2011.11.940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307842PMC
October 2012

Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma.

J Invest Dermatol 2012 Apr 8;132(4):1272-9. Epub 2011 Dec 8.

Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, Connecticut 06520-8034, USA.

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http://dx.doi.org/10.1038/jid.2011.402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3305835PMC
April 2012

Hereditary melanoma.

Curr Probl Cancer 2011 Jul-Aug;35(4):162-72

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http://dx.doi.org/10.1016/j.currproblcancer.2011.07.001DOI Listing
December 2011

Basal cell carcinoma arising in a nevus sebaceus in a child with facial trichoepitheliomas.

Pediatr Dermatol 2011 Mar-Apr;28(2):138-41

Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah 84124, USA.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01227.xDOI Listing
August 2011

Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model.

DNA Repair (Amst) 2009 Aug 15;8(8):944-52. Epub 2009 Jul 15.

Department of Genetics, Yale University School of Medicine, 333 Cedar St., SHM-I 321, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1016/j.dnarep.2009.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745199PMC
August 2009

MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair.

DNA Repair (Amst) 2008 Mar 6;7(3):476-86. Epub 2008 Feb 6.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.

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http://dx.doi.org/10.1016/j.dnarep.2007.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2277339PMC
March 2008

Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis.

Yale J Biol Med 2006 Dec;79(3-4):105-14

Department of Biophysics and Biochemistry, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1994794PMC
December 2006

Drosophila homologs of FANCD2 and FANCL function in DNA repair.

DNA Repair (Amst) 2006 Nov 21;5(11):1317-26. Epub 2006 Jul 21.

Department of Genetics, Yale University School of Medicine, 333 Cedar St., New Haven, CT 06520-8005, USA.

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http://dx.doi.org/10.1016/j.dnarep.2006.05.044DOI Listing
November 2006

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.

Clin Chem 2006 Oct 3;52(10):1864-70. Epub 2006 Aug 3.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55901, USA.

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http://dx.doi.org/10.1373/clinchem.2006.072397DOI Listing
October 2006

Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome.

Nat Clin Pract Oncol 2006 Oct;3(10):575-80

Pediatric and Developmental Pathology Program, Department of Pathology, Yale University School of Medicine, 430 Congress Avenue, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1038/ncponc0608DOI Listing
October 2006

Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response.

Cancer Res 2006 Sep;66(17):8397-403

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-06-0061DOI Listing
September 2006

PGR +331 A/G and increased risk of epithelial ovarian cancer.

Cancer Epidemiol Biomarkers Prev 2006 Sep;15(9):1738-41

Department of Epidemiology and Public Health, Yale University School of Medicine, 60 College Street, P.O. Box 208034, New Haven, CT 06520-8034, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-06-0272DOI Listing
September 2006

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Hum Mutat 2006 Jul;27(7):626-32

College of Life Science, University of Maryland, College Park, Maryland, USA.

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http://doi.wiley.com/10.1002/humu.20339
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http://dx.doi.org/10.1002/humu.20339DOI Listing
July 2006

Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

Genet Med 2005 Nov-Dec;7(9):611-9

DNA Diagnostic Laboratory, Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://dx.doi.org/10.109701.gim.0000182879.57182.b4DOI Listing
June 2006

Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused.

Development 2005 Oct;132(19):4407-17

Yale University School of Medicine, Box 208005, New Haven, CT 06520-8005, USA.

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http://dx.doi.org/10.1242/dev.02021DOI Listing
October 2005

Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory.

Genet Med 2005 Feb;7(2):131-8

DNA Diagnostic Laboratory, Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.

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http://dx.doi.org/10.109701.GIM.0000153663.62300.F8DOI Listing
February 2005

Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1.

Hum Mol Genet 2004 Oct 27;13(20):2399-408. Epub 2004 Aug 27.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.

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http://dx.doi.org/10.1093/hmg/ddh271DOI Listing
October 2004

Incidence of BRCA1 and BRCA2 mutations in young Korean breast cancer patients.

J Clin Oncol 2004 May;22(9):1638-45

Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1200/JCO.2004.04.179DOI Listing
May 2004

BRCA status, molecular markers, and clinical variables in early, conservatively managed breast cancer.

Breast J 2003 May-Jun;9(3):167-74

Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

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September 2003

Hedgehog signaling and human disease.

Authors:
Allen E Bale

Annu Rev Genomics Hum Genet 2002 15;3:47-65. Epub 2002 Apr 15.

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.

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http://www.annualreviews.org/doi/10.1146/annurev.genom.3.022
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http://dx.doi.org/10.1146/annurev.genom.3.022502.103031DOI Listing
December 2002

MEN1 tumor-suppressor protein localizes to telomeres during meiosis.

Genes Chromosomes Cancer 2002 Sep;35(1):81-5

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.

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http://dx.doi.org/10.1002/gcc.10113DOI Listing
September 2002

Genetic and molecular control of folate-homocysteine metabolism in mutant mice.

Mamm Genome 2002 May;13(5):259-67

Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, 10900 Euclid Avenue, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1007/s00335-001-3054-2DOI Listing
May 2002

Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status.

Lancet 2002 Apr;359(9316):1471-7

Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT 06520-8040, USA.

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http://dx.doi.org/10.1016/S0140-6736(02)08434-9DOI Listing
April 2002

Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

Hum Mutat 2002 Mar;19(3):307

Unidad de Consejo Genético. Servicio de Prevención y Control del Cáncer, Instituto Catalonian National Cancer Institute, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.9014DOI Listing
March 2002