Health Sciences Research

Research Output 1992 2019

1999
84 Citations (Scopus)

Alpha1-antitrypsin deficiency allele carriers among lung cancer patients

Yang, P., Wentzlaff, K. A., Katzmann, J. A., Marks, R. S., Allen, M. S., Lesnick, T. G., Lindor, N. M., Myers, J. L., Wiegert, E., Midthun, D. E., Thibodeau, S. N. & Krowka, M. J., May 1999, In : Cancer Epidemiology Biomarkers and Prevention. 8, 5, p. 461-465 5 p.

Research output: Contribution to journalArticle

Lung Neoplasms
Alleles
Chronic Obstructive Pulmonary Disease
Protease Inhibitors
Epithelial Cells
73 Citations (Scopus)

CALL gene is haploinsufficient in a 3p- syndrome patient

Angeloni, D., Lindor, N. M., Pack, S., Latif, F., Wei, M. H. & Lerman, M. I., Oct 29 1999, In : American Journal of Medical Genetics. 86, 5, p. 482-485 4 p.

Research output: Contribution to journalArticle

Genes
Chromosomes, Human, Pair 3
Intellectual Disability
Phenotype
213 Citations (Scopus)

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

Guilford, P. J., Hopkins, J. B. W., Grady, W. M., Markowitz, S. D., Willis, J., Lynch, H., Rajput, A., Wiesner, G. L., Lindor, N. M., Burgart, L. J., Toro, T. T., Lee, D., Limacher, J. M., Shaw, D. W., Findlay, M. P. N. & Reeve, A. E., 1999, In : Human Mutation. 14, 3, p. 249-255 7 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Cadherins
Stomach Neoplasms
Mutation
Neoplasms
26 Citations (Scopus)

Familial trigeminal neuralgia and contralateral hemifacial spasm

Duff, J. M., Spinner, R. J., Lindor, N. M., Dodick, D. W. & Atkinson, J. L. D., Jul 13 1999, In : Neurology. 53, 1, p. 216-218 3 p.

Research output: Contribution to journalArticle

Hemifacial Spasm
Trigeminal Neuralgia
Siblings
Mothers
4 Citations (Scopus)

Guidelines for buccal smear collection in breast-fed infants

Babovic-Vuksanovic, D., Michels, V. V., Law, M. E., Bailey, R., Wyatt, W. A., Lindor, N. M. & Jalal, S. M., Jun 4 1999, In : American Journal of Medical Genetics. 84, 4, p. 357-360 4 p.

Research output: Contribution to journalArticle

Cheek
Breast
Guidelines
Mouth Mucosa
Mothers
50 Citations (Scopus)

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene

Halling, K. C., Lazzaro, C. R., Honchel, R., Bufill, J. A., Powell, S. M., Arndt, C. A. S. & Lindor, N. M., Mar 1999, In : Human Heredity. 49, 2, p. 97-102 6 p.

Research output: Contribution to journalArticle

APC Genes
Aggressive Fibromatosis
Mutation
Germ-Line Mutation
Amish
515 Citations (Scopus)

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M. & Furuichi, Y., May 1999, In : Nature Genetics. 22, 1, p. 82-84 3 p.

Research output: Contribution to journalArticle

Rothmund-Thomson Syndrome
Mutation
RecQ Helicases
Skin Abnormalities
Bloom Syndrome
18 Citations (Scopus)

p73 mutations are not detected in sporadic and hereditary breast cancer

Schwartz, D. I., Lindor, N. M., Walsh-Vockley, C., Roche, P. C., Ming, M., Smith, D. I., Wanguo, L. & Couch, F. J., 1999, In : Breast Cancer Research and Treatment. 58, 1, p. 25-29 5 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Mutation
Tumor Suppressor Genes
Genes
Loss of Heterozygosity
1 Citation (Scopus)

Resolution of neonatal hypertrophic cardiomyopathy in an infant with an affected mother

Eidem, B. W., Lindor, N. M. & Driscoll, D. J., May 1999, In : Pediatric Cardiology. 20, 3, p. 208-211 4 p.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Mothers
Hypertrophy
135 Citations (Scopus)

Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products

Kitao, S., Lindor, N. M., Shiratori, M., Furuichi, Y. & Shimamoto, A., Nov 1 1999, In : Genomics. 61, 3, p. 268-276 9 p.

Research output: Contribution to journalArticle

Rothmund-Thomson Syndrome
Werner Syndrome
Genes
Exons
RecQ Helicases
1998
12 Citations (Scopus)

Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters

Babovic-Vuksanovic, D., Westman, J. A., Jalal, S. M. & Lindor, N. M., 1998, In : Clinical Dysmorphology. 7, 3, p. 171-176 6 p.

Research output: Contribution to journalArticle

Nuclear Family
Brachydactyly
Mothers
Craniosynostoses
Turner Syndrome
179 Citations (Scopus)

Familial predisposition for colorectal cancer in chronic ulcerative colitis: A case-control study

Nuako, K. W., Ahlquist, D. A., Mahoney, D. W., Schaid, D. J., Siems, D. M. & Lindor, N. M., 1998, In : Gastroenterology. 115, 5, p. 1079-1083 5 p.

Research output: Contribution to journalArticle

Ulcerative Colitis
Case-Control Studies
Colorectal Neoplasms
Neoplasms
Colitis
340 Citations (Scopus)

Increased risk for cancer in patients with the Peutz-Jeghers syndrome

Boardman, L. A., Thibodeau, S. N., Schaid, D. J., Lindor, N. M., McDonnell, S. K., Burgart, L. J., Ahlquist, D. A., Podratz, K. C., Pittelkow, M. & Hartmann, L. C., Jun 1 1998, In : Annals of Internal Medicine. 128, 11, p. 896-899 4 p.

Research output: Contribution to journalArticle

Peutz-Jeghers Syndrome
Neoplasms
Breast Neoplasms
Gastrointestinal Neoplasms
Telephone
7 Citations (Scopus)

Search for chromosome instability in lymphocytes with germ-line mutations in DNA mismatch repair genes

Lindor, N. M., Jalal, S. M., VanDeWalker, T. J., Cunningham, J. M., Dahl, R. J. & Thibodeau, S. N., Jul 1998, In : Cancer Genetics and Cytogenetics. 104, 1, p. 48-51 4 p.

Research output: Contribution to journalArticle

Chromosomal Instability
DNA Mismatch Repair
Germ-Line Mutation
Hereditary Nonpolyposis Colorectal Neoplasms
Lymphocytes
1 Citation (Scopus)

Symposium: Genetic testing and management of the cancer patient and cancer families

Webb, M. J., Hartmann, L. C., Lindor, N. M., Church, J. M., Crowe, J. P. & Gallion, H. H., 1998, In : Journal of the American College of Surgeons. 187, 4, p. 449-456 8 p.

Research output: Contribution to journalArticle

Genetic Testing
Ovarian Neoplasms
Colorectal Neoplasms
Breast Neoplasms
Neoplasms
271 Citations (Scopus)

The concise handbook of family cancer syndromes

Lindor, N. M. & Greene, M. H., Jul 15 1998, In : Journal of the National Cancer Institute. 90, 14, p. 1039-1071 33 p.

Research output: Contribution to journalArticle

Population Surveillance
Neoplasms
5 Citations (Scopus)

Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: Another ophthalmologic complication

Babovic-Vuksanovic, D., Jalal, S. M., Garrity, J. A., Robertson, D. M. & Lindor, N. M., 1998, In : American Journal of Medical Genetics. 80, 4, p. 373-376 4 p.

Research output: Contribution to journalArticle

Smith-Magenis Syndrome
Vision Disorders
Myopia
Cicatrix
Retinal Detachment
1997
22 Citations (Scopus)

A new syndrome of Crohn's disease and pachydermoperiostosis in a family

Compton, R. F., Sandborn, W. J., Yang, H., Lindor, N. M., Tremaine, W. J., Davis, M. D. P., Khalil, A. A., Tountas, N. A., Tyan, D. B., Landers, C. J., Taylor, K. D., Viggiano, T. R., Matteson, E. L., Schroeter, A. L., Plevy, S. E., Cominelli, F., Targan, S. R. & Rotter, J. I., 1997, In : Gastroenterology. 112, 1, p. 241-249 9 p.

Research output: Contribution to journalArticle

Primary Hypertrophic Osteoarthropathy
Crohn Disease
Antineutrophil Cytoplasmic Antibodies
Interleukin-1 Receptors
Genes
16 Citations (Scopus)

De novo 16p deletion: ATR-16 syndrome

Lindor, N. M., Valdes, M. G., Wick, M. J., Thibodeau, S. N. & Jalal, S., Nov 12 1997, In : American Journal of Medical Genetics. 72, 4, p. 451-454 4 p.

Research output: Contribution to journalArticle

Thalassemia
Globins
Chromosomes, Human, Pair 16
Chromosome Deletion
Densitometry
34 Citations (Scopus)

Melorheostosis in a patient with familial osteopoikilosis

Butkus, C. E., Michels, V. V., Lindor, N. M. & Cooney, W. P., Oct 3 1997, In : American Journal of Medical Genetics. 72, 1, p. 43-46 4 p.

Research output: Contribution to journalArticle

Osteopoikilosis
Melorheostosis
Developmental Bone Disease
Mutation
1996
470 Citations (Scopus)

Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes

Thibodeau, S. N., French, A. J., Roche, P. C., Cunningham, J. M., Tester, D. J., Lindor, N. M., Moslein, G., Baker, S. M., Liskay, R. M., Burgart, L. J., Honchel, R. & Halling, K. C., Nov 1 1996, In : Cancer Research. 56, 21, p. 4836-4840 5 p.

Research output: Contribution to journalArticle

Microsatellite Instability
DNA Mismatch Repair
Mutation
Genes
Neoplasms
9 Citations (Scopus)

A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'

Lindor, N. M., Hoffman, A. D. & Primrose, D. A., 1996, In : Clinical Dysmorphology. 5, 1, p. 27-34 8 p.

Research output: Contribution to journalArticle

Wasting Syndrome
External Ear
Muscles
Nervous System Diseases
Hearing Loss
9 Citations (Scopus)

Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter→Xq13

Jalal, S. M., Dahl, R., Erickson, L., Zimmerman, D. & Lindor, N. M., 1996, In : Journal of Medical Genetics. 33, 3, p. 237-239 3 p.

Research output: Contribution to journalArticle

Sexual Development
Amenorrhea
Cytogenetics
Isochromosomes
Paint
222 Citations (Scopus)

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer

Moslein, G., Tester, D. J., Lindor, N. M., Honchel, R., Cunningham, J. M., French, A. J., Halling, K. C., Schwab, M., Goretzki, P. & Thibodeau, S. N., Sep 1996, In : Human Molecular Genetics. 5, 9, p. 1245-1252 8 p.

Research output: Contribution to journalArticle

Microsatellite Instability
Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
Mutation
DNA Mismatch Repair
68 Citations (Scopus)

Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism

Lindor, N. M., Devries, E. M. G., Michels, V. V., Schad, C. R., Jalal, S. M., Donovan, K. M., Smithson, W. A., Kvols, L. K., Thibodeau, S. N. & Dewald, G. W., Mar 1996, In : Clinical Genetics. 49, 3, p. 124-129 6 p.

Research output: Contribution to journalArticle

Rothmund-Thomson Syndrome
Mosaicism
Siblings
Cytogenetics
Clone Cells
1995
17 Citations (Scopus)

Asplenia in two father-son pairs

Lindor, N. M., Smithson, W. A., Ahumada, C. A., Michels, V. V. & Opitz, J. M., 1995, In : American Journal of Medical Genetics. 56, 1, p. 10-11 2 p.

Research output: Contribution to journalArticle

Nuclear Family
Fathers
Spleen
Mutation
Incidence
14 Citations (Scopus)

Central pontine myelinolysis as a complication of partial ornithine carbamoyl transferase deficiency

Mattson, L. R., Lindor, N. M., Goldman, D. H., Goodwin, J. T., Groover, R. V. & Vockley, J., 1995, In : American Journal of Medical Genetics - Neuropsychiatric Genetics. 60, 3, p. 210-213 4 p.

Research output: Contribution to journalArticle

Carboxyl and Carbamoyl Transferases
Central Pontine Myelinolysis
Ornithine
Ammonia
Hyperammonemia
84 Citations (Scopus)

Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II

Ledger, G. A., Khosla, S., Lindor, N. M., Thibodeau, S. N. & Gharib, H., 1995, In : Annals of Internal Medicine. 122, 2, p. 118-124 7 p.

Research output: Contribution to journalArticle

Multiple Endocrine Neoplasia
Genetic Testing
Pentagastrin
Information Storage and Retrieval
Calcitonin
8 Citations (Scopus)

Laboratory medicine and pathology: Initial assessment of infants and children with suspected inborn errors of metabolism

Lindor, N. M. & Karnes, P. S., 1995, In : Mayo Clinic Proceedings. 70, 10, p. 987-988 2 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Preschool Children
Differential Diagnosis
61 Citations (Scopus)

Mutations in the RET protooncogene in sporadic pheochromocytomas

Lindor, N. M., Honchel, R., Khosla, S. & Thibodeau, S. N., 1995, In : Journal of Clinical Endocrinology and Metabolism. 80, 2, p. 627-629 3 p.

Research output: Contribution to journalArticle

Pheochromocytoma
Exons
Mutation
Tumors
Multiple Endocrine Neoplasia
12 Citations (Scopus)

Uniparental disomy in congenital disorders: A prospective study

Lindor, N. M., Karnes, P. S., Michels, V. V., Dewald, G. W., Goerss, J., Jalal, S., Jenkins, R. B., Vockley, G. & Thibodeau, S. N., 1995, In : American Journal of Medical Genetics. 58, 2, p. 143-146 4 p.

Research output: Contribution to journalArticle

Uniparental Disomy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Prospective Studies
Chromosomes
Intellectual Disability
1994
21 Citations (Scopus)

Form of 15q proximal duplication appears to be a normal euchromatic variant [3]

Jalal, S. M., Persons, D. L., Dewald, G. W. & Lindor, N. M., 1994, In : American Journal of Medical Genetics. 52, 4, p. 495-497 3 p.

Research output: Contribution to journalArticle

Chromosome Disorders
Angelman Syndrome
Prader-Willi Syndrome
Chromosomes, Human, Pair 15
Family Health
13 Citations (Scopus)

Sanfilippo syndrome type A in two adult sibs

Lindor, N. M., Hoffman, A., O'Brien, J. F., Hanson, N. P. & Thompson, J. N., 1994, In : American Journal of Medical Genetics. 53, 3, p. 241-244 4 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis III
7 Citations (Scopus)

Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics

Lindor, N. M., Sobell, J. L., Heston, L. L., Thibodeau, S. N. & Sommer, S. S., 1994, In : American Journal of Medical Genetics. 54, 1, p. 1-4 4 p.

Research output: Contribution to journalArticle

Dystrophin
Viverridae
Schizophrenia
Genes
Duchenne Muscular Dystrophy
1993
13 Citations (Scopus)

Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy

Jalal, S. M., Lindor, N. M., Michels, V. V., Buckley, D. D., Hoppe, D. A., Sarkar, G. & Dewald, G. W., 1993, In : American Journal of Medical Genetics. 46, 4, p. 441-443 3 p.

Research output: Contribution to journalArticle

Chromosome Fragility
Myotonic Dystrophy
Trinucleotide Repeats
Fragile X Syndrome
Reference Values
50 Citations (Scopus)

Autosomal dominant supravalvular aortic stenosis: Localization to chromosome 7

Olson, T. M., Michels, V. V., Lindor, N. M., Pastores, G. M., Weber, J. L., Schaid, D. J., Driscoll, D. J., Feldt, R. H. & Thibodeau, S. N., Jul 1993, In : Human Molecular Genetics. 2, 7, p. 869-873 5 p.

Research output: Contribution to journalArticle

Aortic Stenosis
Supravalvular Aortic Stenosis
Chromosomes, Human, Pair 7
Chromosomes
Chromosome
3 Citations (Scopus)

Eight novel polymorphisms in the dystrophin gene of African-Americans: The rate of polymorphism is high

Lindor, N. M., Sommer, S. S., Sobell, J., Heston, L. & Thibodeau, S. N., 1993, In : Human Mutation. 2, 6, p. 485-488 4 p.

Research output: Contribution to journalArticle

Dystrophin
Southern Blotting
Restriction Fragment Length Polymorphisms
African Americans
Genes
32 Citations (Scopus)

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Lindor, N. M., Jalal, S. M., Thibodeau, S. N., Bonde, D., Sauser, K. L. & Karnes, P. S., 1993, In : Clinical Genetics. 44, 4, p. 185-189 5 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 16
Mothers
Mosaicism
Karyotype
Fibroblasts
1992
25 Citations (Scopus)

Effects of Differing Nicotine-Replacement Doses on Weight Gain After Smoking Cessation

Leischow, S. J., Sachs, D. P. L., Bostrom, A. G. & Hansen, M. D., Jan 1 1992, In : Archives of Family Medicine. 1, 2, p. 233-237 5 p.

Research output: Contribution to journalArticle

Smoking Cessation
Nicotine
Weight Gain

Hereditary cholestasis of the Norwegian type: Aagenaes syndrome

Lindor, N. M., Schirger, A. & Michels, V. V., 1992, In : Dysmorphology and Clinical Genetics. 6, 4, p. 180-183 4 p.

Research output: Contribution to journalArticle

Cholestasis
Lymphedema
Natural History
Aagenaes syndrome
1 Citation (Scopus)

Trisomy 13 in a 16-year-old boy

Lindor, N. M., Karnes, P. S., Jalal, S. M., Dewald, G. W., Shaughnessy, W. J. & Michels, V. V., 1992, In : Dysmorphology and Clinical Genetics. 6, 4, p. 199-202 4 p.

Research output: Contribution to journalArticle

Survivors
Counseling
Fetus
Parents
Phenotype
24 Citations (Scopus)

Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects

Lindor, N. M., Michels, V. V., Hoppe, D. A., Driscoll, D. J., Leavitt, J. A. & Dewald, G. W., 1992, In : American Journal of Medical Genetics. 44, 1, p. 61-65 5 p.

Research output: Contribution to journalArticle

Congenital Heart Defects
Microphthalmos
Skin
Syndromic 7 Microphthalmia
Sclerocornea