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Results: 1-23 |
Results: 23
Papillary renal cell carcinoma: Analysis of germline mutations in the MET proto-oncogene in a clinic-based population
Authors: Lindor, NM Dechet, CB Greene, MH Jenkins, RB Zincke, MT Weaver, AL Wilson, M Zincke, H Liu, WG
Citation: Nm. Lindor et al., Papillary renal cell carcinoma: Analysis of germline mutations in the MET proto-oncogene in a clinic-based population, GENET TEST, 5(2), 2001, pp. 101-106
A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair
Authors: Boardman, LA Schmidt, S Lindor, NM Burgart, LJ Cunningham, JM Price-Troska, T Snow, K Ahlquist, DA Thibodeau, SN
Citation: La. Boardman et al., A search for germline APC mutations in early onset colorectal cancer or familial colorectal cancer with normal DNA mismatch repair, GENE CHROM, 30(2), 2001, pp. 181-186
Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders
Authors: Jalal, SM Law, ME Lindor, NM Thompson, KJ Sekhon, GS
Citation: Sm. Jalal et al., Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders, MAYO CLIN P, 76(1), 2001, pp. 16-21
Birt-Hogg-Dube Syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis
Authors: Lindor, NM Hand, J Burch, PA Gibson, LE
Citation: Nm. Lindor et al., Birt-Hogg-Dube Syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis, INT J DERM, 40(10), 2001, pp. 653-656
Germline E-cadherin gene mutations - Is prophylactic total gastrectomy indicated?
Authors: Chun, YS Lindor, NM Smyrk, TC Petersen, BT Burgart, LJ Guilford, PJ Donohue, JH
Citation: Ys. Chun et al., Germline E-cadherin gene mutations - Is prophylactic total gastrectomy indicated?, CANCER, 92(1), 2001, pp. 181-187
Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers
Authors: Yang, P Cunningham, JM Halling, KC Lesnick, TG Burgart, LJ Wiegert, EM Christensen, ER Lindor, NM Katzmann, JA Thibodeau, SN
Citation: P. Yang et al., Higher risk of mismatch repair-deficient colorectal cancer in alpha(1)-antitrypsin deficiency carriers and cigarette smokers, MOL GEN MET, 71(4), 2000, pp. 639-645
Severe end of Opitz trigonocephaly c syndrome
Authors: Lindor, NM Ramin, KD Kleinberg, F Bite, U
Citation: Nm. Lindor et al., Severe end of Opitz trigonocephaly c syndrome, AM J MED G, 92(5), 2000, pp. 363-365
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome
Authors: Lindor, NM Furuichi, Y Kitao, S Shimamoto, A Arndt, C Jalal, S
Citation: Nm. Lindor et al., Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome, AM J MED G, 90(3), 2000, pp. 223-228
von Hippel-Lindau disease
Authors: Couch, V Lindor, NM Karnes, PS Michels, VV
Citation: V. Couch et al., von Hippel-Lindau disease, MAYO CLIN P, 75(3), 2000, pp. 265-272
Care of patients and their families with familial adenomatous polyposis
Authors: King, JE Dozois, RR Lindor, NM Ahlquist, DA
Citation: Je. King et al., Care of patients and their families with familial adenomatous polyposis, MAYO CLIN P, 75(1), 2000, pp. 57-67
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
Authors: Yeon, HB Lindor, NM Seidman, JG Seidman, CE
Citation: Hb. Yeon et al., Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q, AM J HU GEN, 66(4), 2000, pp. 1443-1448
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
Authors: Kitao, S Shimamoto, A Goto, M Miller, RW Smithson, WA Lindor, NM Furuichi, Y
Citation: S. Kitao et al., Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome, NAT GENET, 22(1), 1999, pp. 82-84
E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer
Authors: Guilford, PJ Hopkins, JBW Grady, WM Markowitz, SD Willis, J Lynch, H Rajput, A Wiesner, GL Lindor, NM Burgart, LJ Toro, TT Lee, D Limacher, JM Shaw, DW Findlay, MPN Reeve, AE
Citation: Pj. Guilford et al., E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer, HUM MUTAT, 14(3), 1999, pp. 249-255
Alpha(1)-antitrypsin deficiency allele carriers among lung cancer patients
Authors: Yang, P Wentzlaff, KA Katzmann, JA Marks, RS Allen, MS Lesnick, TG Lindor, NM Myers, JL Wiegert, E Midthun, DE Thibodeau, SN Krowka, MJ
Citation: P. Yang et al., Alpha(1)-antitrypsin deficiency allele carriers among lung cancer patients, CANC EPID B, 8(5), 1999, pp. 461-465
Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products
Authors: Kitao, S Lindor, NM Shiratori, M Furuichi, Y Shimamoto, A
Citation: S. Kitao et al., Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products, GENOMICS, 61(3), 1999, pp. 268-276
Resolution of neonatal hypertrophic cardiomyopathy in an infant with an affected mother
Authors: Eidem, BW Lindor, NM Driscoll, DJ
Citation: Bw. Eidem et al., Resolution of neonatal hypertrophic cardiomyopathy in an infant with an affected mother, PEDIAT CARD, 20(3), 1999, pp. 208-211
p73 mutations are not detected in sporadic and hereditary breast cancer
Authors: Schwartz, DI Lindor, NM Walsh-Vockley, C Roche, PC Mai, M Smith, DI Liu, W Couch, FJ
Citation: Di. Schwartz et al., p73 mutations are not detected in sporadic and hereditary breast cancer, BREAST CANC, 58(1), 1999, pp. 25-29
CALL gene is haploinsufficient in a 3p-syndrome patient
Authors: Angeloni, D Lindor, NM Pack, S Latif, F Wei, MH Lerman, MI
Citation: D. Angeloni et al., CALL gene is haploinsufficient in a 3p-syndrome patient, AM J MED G, 86(5), 1999, pp. 482-485
Guidelines for buccal smear collection in breast-fed infants
Authors: Babovic-Vuksanovic, D Michels, VV Law, ME Bailey, R Wyatt, WA Lindor, NM Jalal, SM
Citation: D. Babovic-vuksanovic et al., Guidelines for buccal smear collection in breast-fed infants, AM J MED G, 84(4), 1999, pp. 357-360
Familial trigeminal neuralgia and contralateral hemifacial spasm
Authors: Duff, JM Spinner, RJ Lindor, NM Dodick, DW Atkinson, JLD
Citation: Jm. Duff et al., Familial trigeminal neuralgia and contralateral hemifacial spasm, NEUROLOGY, 53(1), 1999, pp. 216-218
Suspected hereditary nonpolyposis colorectal cancer - International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis - Invited Editorial
Authors: Lindor, NM
Citation: Nm. Lindor, Suspected hereditary nonpolyposis colorectal cancer - International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) criteria and results of genetic diagnosis - Invited Editorial, DIS COL REC, 42(6), 1999, pp. 715-716
Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene
Authors: Halling, KC Lazzaro, CR Honchel, R Bufill, JA Powell, SM Arndt, CAS Lindor, NM
Citation: Kc. Halling et al., Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene, HUMAN HERED, 49(2), 1999, pp. 97-102
Visual impairment due to macular disciform scars in a 20-year-old man withSmith-Magenis syndrome: Another ophthalmologic complication
Authors: Babovic-Vuksanovic, D Jalal, SM Garrity, JA Robertson, DM Lindor, NM
Citation: D. Babovic-vuksanovic et al., Visual impairment due to macular disciform scars in a 20-year-old man withSmith-Magenis syndrome: Another ophthalmologic complication, AM J MED G, 80(4), 1998, pp. 373-376
Risultati: 1-23 |