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1

Gender Verification in Competitive Sports

Simpson, Joe Leigh, Ljungqvist, Arne, de la Chapelle, Albert, Ferguson-Smith, Malcolm A., Genel, Myron, Carlson, Alison S., Ehrhardt, Anke A., Ferris, Elizabeth

Journal:

Sports Medicine

Year:

1993

Language:

english

File:

PDF, 1.09 MB

english, 1993

2

Role of cancer-associated stromal fibroblasts in metastatic colon cancer to the liver and their expression profiles

Nakagawa, Hidewaki, Liyanarachchi, Sandya, Davuluri, Ramana V, Auer, Herbert, Martin, Edward W, de la Chapelle, Albert, Frankel, Wendy L

Journal:

Year:

2004

Language:

english

File:

PDF, 404 KB

english, 2004

3

MicroRNA Signature in Thyroid Fine Needle Aspiration Cytology Applied to “Atypia of Undetermined Significance” Cases

Shen, Rulong, Liyanarachchi, Sandya, Li, Wei, Wakely, Paul E., Saji, Motoyasu, Huang, Jie, Nagy, Rebecca, Farrell, Tisha, Ringel, Matthew D., de la Chapelle, Albert

Journal:

Year:

2012

Language:

english

File:

PDF, 218 KB

english, 2012

4

Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients

Hampel, Heather, Pearlman, Rachel, de la Chapelle, Albert, Pritchard, Colin C., Zhao, Weiqiang, Jones, Dan, Yilmaz, Ahmet, Chen, Wei, Frankel, Wendy L., Suarez, Adrian A., Cosgrove, Casey, Backes, Flo

Journal:

Gynecologic Oncology

Year:

2020

File:

PDF, 579 KB

2020

5

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

Minna Nyström-Lahti, Mari Holmberg, Paulo Fidalgo, Reijo Salovaara, Albert de la Chapelle, Josef Jiricny, Päivi Peltomäki

Journal:

Genes, Chromosomes and Cancer

Year:

1999

Language:

english

File:

PDF, 199 KB

english, 1999

6

Response to: getting rid of the PMS2 pseudogenes: mission impossible?

Mark Clendenning, Albert de la Chapelle

Journal:

Year:

2007

Language:

english

File:

PDF, 81 KB

english, 2007

7

Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 213 KB

english, 2011

8

Low cancer incidence rates in Ohio Amish

Judith A. Westman, Amy K. Ferketich, Ross M. Kauffman, Steven N. MacEachern, J. R. Wilkins, Patricia P. Wilcox, Robert T. Pilarski, Rebecca Nagy, Stanley Lemeshow, Albert de la Chapelle, Clara D. Bloo

Journal:

Cancer Causes & Control

Year:

2010

Language:

english

File:

PDF, 346 KB

english, 2010

9

Olympic row over sex testing

FERGUSON-SMITH, M. A., CARLSON, ALISON, CHAPELLE, ALBERT DE LA, EHRHARDT, ANKE, FERRIS, ELIZABETH, LJUNGQVIST, ARNE, GENEL, MYRON, SIMPSON, JOE LEIGH

Journal:

Year:

1992

File:

PDF, 145 KB

1992

10

Polymerase δ variants in RER colorectal tumours

da Costa, Luis T., Liu, Bo, El-Deiry, Wafik S., Hamilton, Stanley R., Kinzler, Kenneth W., Vogelstein, Bert, Markowitz, Sanford, Willson, James K.V., de la Chapelle, Albert, Downey, Kathleen M.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 369 KB

1995

11

Autoradiographically identified karyotype 49,XXXXY, t(4; 11) (q35; q23) confirmed by banding

Albert de la Chapelle, Jim Schröder

Journal:

Year:

1973

Language:

english

File:

PDF, 172 KB

english, 1973

12

Gender verification of female athletes

Elsas, Louis J, Ljungqvist, Arne, Ferguson-Smith, Malcolm A, Simpson, Joe Leigh, Genel, Myron, Carlson, Alison S, Ferris, Elizabeth, De La Chapelle, Albert, Ehrhardt, Anke A

Journal:

Genetics in Medicine

Year:

2000

Language:

english

File:

PDF, 603 KB

english, 2000

13

The I1307K polymorphism of the APC gene in colorectal cancer

Thomas W. Prior, Robert B. Chadwick, Audrey C. Papp, Anuradha N. Arcot, Alexandra M. Isa, Dennis K. Pearl, Grant Stemmermann, Antonio Percesepe, Anu Loukola, Lauri A. Aaltonen, Albert de la Chapelle

Journal:

Gastroenterology

Year:

1999

Language:

english

File:

PDF, 147 KB

english, 1999

14

Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Stephan M Tanner, Amy C Sturm, Elizabeth C Baack, Sandya Liyanarachchi, Albert de la Chapelle

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 299 KB

english, 2012

15

Genetics of Hereditary Colon Cancer

de la Chapelle, Albert, Peltomäki, Päivi

Journal:

Annual Review of Genetics

Year:

1995

Language:

english

File:

PDF, 1.01 MB

english, 1995

16

Colon and Endometrial Cancers With Mismatch Repair Deficiency Can Arise From Somatic, Rather Than Germline, Mutations

Haraldsdottir, Sigurdis, Hampel, Heather, Tomsic, Jerneja, Frankel, Wendy L., Pearlman, Rachel, de la Chapelle, Albert, Pritchard, Colin C.

Journal:

Gastroenterology

Year:

2014

Language:

english

File:

PDF, 399 KB

english, 2014

17

The Use and Misuse of Sex Chromatin Screening for `Gender Identification' of Female Athletes

de la Chapelle, Albert

Journal:

JAMA The Journal of the American Medical Association

Year:

1986

Language:

english

File:

PDF, 548 KB

english, 1986

18

Monosomy 7 in Granulocytes and Monocytes in Myelodysplastic Syndrome

Kere, Juha, Ruutu, Tapani, de la Chapelle, Albert

Journal:

Boston Medical and Surgical Journal

Year:

1987

Language:

english

File:

PDF, 2.66 MB

english, 1987

19

The Olympic Games and Athletic Sex Assignment

Genel, Myron, Simpson, Joe Leigh, de la Chapelle, Albert

Journal:

JAMA The Journal of the American Medical Association

Year:

2016

Language:

english

File:

PDF, 55 KB

english, 2016

20

Genetic counseling in a navajo hereditary nonpolyposis colorectal cancer kindred

Henry T. Lynch, Tom Drouhard, Hans F. A. Vasen, Jennifer Cavalieri, Jane Lynch, Suzanne Nord, Thomas Smyrk, Stephen Lanspa, Patricia Murphy, Kathy L. Whelan, June Peters, Albert de la Chapelle

Journal:

Year:

1996

Language:

english

File:

PDF, 565 KB

english, 1996

21

Microsatellite instability in cervical and endometrial carcinomas

Åslaug Helland, Anne-Lise Børresen-Dale, Päivi Peltomäki, Merete Hektoen, Gunnar B. Kristensen, Jahn M. Nesland, Albert de la Chapelle, Ragnhild A. Lothe

Journal:

International Journal of Cancer

Year:

1997

Language:

english

File:

PDF, 82 KB

english, 1997

22

Cancer risk in mutation carriers of DNA-mismatch-repair genes

Markku Aarnio, Risto Sankila, Eero Pukkala, Reijo Salovaara, Lauri A. Aaltonen, Albert de la Chapelle, Päivi Peltomäki, Jukka-Pekka Mecklin, Heikki J. Järvinen

Journal:

International Journal of Cancer

Year:

1999

Language:

english

File:

PDF, 46 KB

english, 1999

23

Predictive genetic testing for hereditary non-polyposis colorectal cancer: Uptake and long-term satisfaction

Katja Aktan-Collan, Jukka-Pekka Mecklin, Heikki Järvinen, Minna Nyström-Lahti, Päivi Peltomäki, Ismo Söderling, Antti Uutela, Albert de la Chapelle, Helena Kääriäinen

Journal:

International Journal of Cancer

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

24

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

Pia Höglund, Siru Haila, Karl-Henrik Gustavson, Mikko Taipale, Katariina Hannula, Kataryna Popinska, Christer Holmberg, Jerzy Socha, Albert de la Chapelle, Juha Kere

Journal:

Year:

1998

Language:

english

File:

PDF, 201 KB

english, 1998

25

Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer

Mari Holmberg, Paula Kristo, Robert B. Chadwicks, Jukka-Pekka Mecklin, Heikki Järvinen, Albert de la Chapelle, Minna Nyström-Lahti, Päivi Peltomäki

Journal:

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

26

MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis

Ying Wu, Minna Nyström-Lahti, Jan Osinga, Maaike W. G. Looman, Päivi Peltomäki, Lauri A. Aaltonen, Albert de la Chapelle, Robert M. W. Hofstra, Charles H. C. M. Buys

Journal:

Genes, Chromosomes and Cancer

Year:

1997

Language:

english

File:

PDF, 233 KB

english, 1997

27

Polymorphisms in a pseudogene highly homologous to PMS2

Robert B. Chadwick, Julie E. Meek, Thomas W. Prior, PaivI Peltomaki, Albert de la Chapelle

Journal:

Year:

2000

Language:

english

File:

PDF, 215 KB

english, 2000

28

Inherited interstitial del(Xp) with minimal clinical consequences: With a note on the location of genes controlling phenotypic features

Dr. Riitta Herva, Bogdan Kaluzewski, Albert de la Chapelle, Robert L. Summitt

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 850 KB

english, 1979

29

Dicentric Y chromosome arising via tandem translocation

Riitta Herva, Irja Saarinen, Helka Savikurki, Albert de la Chapelle, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 521 KB

english, 1980

30

Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes?

Fabiola Quintero-Rivera, Natalia T. Leach, Albert de la Chapelle, James F. Gusella, Cynthia C. Morton, David J. Harris

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 107 KB

english, 2007

31

American founder mutation for Lynch syndrome : Prevalence estimates and implications

Henry T. Lynch, Albert de la Chapelle, Heather Hampel, Anja Wagner, Riccardo Fodde, Jane F. Lynch, Ross Okimoto, Mary Beth Clark, Stephanie Coronel, Abdon Trowonou, Yun-Xin Fu, Gleb R. Haynatzki, Gord

Journal:

Year:

2006

Language:

english

File:

PDF, 105 KB

english, 2006

32

Molecular studies of the sex chromosomes in human testicular cancer: Pronounced changes in X and Y chromosome dosage in some tumors

Dr. Päivi Peltomäki, Antero Halme, Albert de la Chapelle

Journal:

Genes, Chromosomes and Cancer

Year:

1989

Language:

english

File:

PDF, 560 KB

english, 1989

33

Molecular mapping of the putative gonadoblastoma locus on the Y chromosome

Pia Salo, Helena Kääriäinen, Vida Petrovic, Päivi Peltomäki, David C. Page, Albert de la Chapelle

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 412 KB

english, 1995

34

Long-range PCR facilitates the identification of PMS2-specific mutations

Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, Annika Lindblom, Jan Lockman, Mef Nilbert, Leigha Senter, Kaisa Sotamaa, Albert de la Chapelle

Journal:

Year:

2006

Language:

english

File:

PDF, 222 KB

english, 2006

35

Long-range PCR facilitates the identification of PMS2-specific mutations

Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, Annika Lindblom, Jan Lockman, Mef Nilbert, Leigha Senter, Kaisa Sotamaa, Albert de la Chapelle

Journal:

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

36

Lynch syndrome deletions in unexpected places

Albert de la Chapelle

Journal:

Year:

2009

Language:

english

File:

PDF, 72 KB

english, 2009

37

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

Hidewaki Nakagawa, Heather Hampel, Albert de la Chapelle

Journal:

Year:

2003

Language:

english

File:

PDF, 201 KB

english, 2003

38

Hypermethylation, but not LOH, is associated with the low expression of MT1G and CRABP1 in papillary thyroid carcinoma

Ying Huang, Albert de la Chapelle, Natalia S. Pellegata

Journal:

International Journal of Cancer

Year:

2003

Language:

english

File:

PDF, 494 KB

english, 2003

39

Evidence for heritable predisposition to epigenetic silencing of MLH1

Huiping Chen, Nicholas P. Taylor, Kaisa M. Sotamaa, David G. Mutch, Matthew A. Powell, Amy P. Schmidt, Sheng Feng, Heather L. Hampel, Albert de la Chapelle, Paul J. Goodfellow

Journal:

International Journal of Cancer

Year:

2007

Language:

english

File:

PDF, 234 KB

english, 2007

40

Identification of a novel noncoding RNA gene, NAMA, that is downregulated in papillary thyroid carcinoma with BRAF mutation and associated with growth arrest

Heejei Yoon, Huiling He, Rebecca Nagy, Ramana Davuluri, Saul Suster, Daniel Schoenberg, Natalia Pellegata, Albert de la Chapelle

Journal:

International Journal of Cancer

Year:

2007

Language:

english

File:

PDF, 793 KB

english, 2007

41

Identifying Lynch syndrome

Albert de la Chapelle, Glenn Palomaki, Heather Hampel

Journal:

International Journal of Cancer

Year:

2009

Language:

english

File:

PDF, 51 KB

english, 2009

42

Altered dosage of the sex chromosomes in human testicular cancer: A molecular genetic study

PÄIvi Peltomäki, Ragnhild Lothe, Anne-Lise Børresen, Sophie D. Fosså, Anton Brøgger, Albert De La Chapelle

Journal:

International Journal of Cancer

Year:

1991

Language:

english

File:

PDF, 541 KB

english, 1991

43

Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate

Juha Kere, Erkki Savilahti, Reijo Norio, Xavier Estivill, Albert de la Chapelle

Journal:

Year:

1990

Language:

english

File:

PDF, 287 KB

english, 1990

44

The Incidence of Lynch Syndrome

Albert de la Chapelle

Journal:

Familial Cancer

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

45

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome

Israel Zighelboim, Matthew A. Powell, Sheri A. Babb, Alison J. Whelan, Amy P. Schmidt, Mark Clendenning, Leigha Senter, Stephen N. Thibodeau, Albert de la Chapelle, Paul J. Goodfellow

Journal:

Familial Cancer

Year:

2009

Language:

english

File:

PDF, 253 KB

english, 2009

46

Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes

Christoph Plass, John C. Byrd, Aparna Raval, Stephan M. Tanner, Albert De La Chapelle

Journal:

British Journal of Haematology

Year:

2007

Language:

english

File:

PDF, 124 KB

english, 2007

47

Normal Mitotic Activity and Karyotype of Leucocytes from Pernicious Anæmia Patients cultured in Vitamin B12-deficient Medium

DE LA CHAPELLE, ALBERT, GRÄSBECK, RALPH

Journal:

Year:

1963

File:

PDF, 253 KB

1963

48

Defective chemotaxis in monosomy-7

RUUTU, PETRI, RUUTU, TAPANI, VUOPIO, PEKKA, KOSUNEN, TIMO U., DE LA CHAPELLE, ALBERT

Journal:

Year:

1977

File:

PDF, 208 KB

1977

49

Genetic evidence of X–Y interchange in a human XX male

de la Chapelle, Albert, Tippett, Patricia A., Wetterstrand, Gunilla, Page, David

Journal:

Year:

1984

File:

PDF, 257 KB

1984

50

Chromosome Y-specific DNA in related human XX males

Page, David C., de la Chapelle, Albert, Weissenbach, Jean

Journal:

Year:

1985

File:

PDF, 793 KB

1985