V. Michels

发表

Duplication of 7q31.2----7qter and deficiency of 18qter: report of two patients and literature review.

G. Dewald, D. D. Johnson, V. Michels, 1986, American journal of medical genetics.

Neurovascular Manifestations of Heritable Connective Tissue Disorders: A Review

W. Schievink, D. Piepgras, V. Michels, 1994, Stroke.

Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

P. Pellikka, M. de Andrade, R. Rodeheffer, 2009, Journal of the American College of Cardiology.

Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22.

D. Maraganore, L. Krahn, V. Michels, 1998, Mayo Clinic proceedings.

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

J. Hand, R. Ketterling, V. Michels, 2000, Prenatal diagnosis.

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies.

N. Ammash, V. Michels, C. Warnes, 2005, Journal of the American College of Cardiology.

Usual interstitial pneumonia complicating dyskeratosis congenita.

J. Myers, J. Ryu, V. Michels, 2005 .

Progression of familial and non-familial dilated cardiomyopathy: long term follow up

D. Schaid, E. Atkinson, D. Driscoll, 2003, Heart.

Familial Association of Intracranial Aneurysms and Cervical Artery Dissections

B. Mokri, W. Schievink, D. Piepgras, 1991, Stroke.

TNNI 3 K mutation in familial syndrome of conduction system disease , atrial tachyarrhythmia and dilated cardiomyopathy

Michael T. Zimmermann, E. Wieben, M. Zimmermann, 2014 .

Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2

J. Opitz, G. Dewald, V. Michels, 1987 .

Comments, Opinions, and Reviews Neurovascular Manifestations of Heritable Connective Tissue Disorders

W. Schievink, D. Piepgras, V. Michels, 2005 .

Phase II trial of pirfenidone in adults with neurofibromatosis type 1

B. O'neill, K. Ballman, N. Lindor, 2006, Neurology.

Intracranial aneurysms in Marfan's syndrome: an autopsy study.

J. Parisi, W. Schievink, D. Piepgras, 1997, Neurosurgery.

Left ventricular function in the Marfan syndrome without significant valvular regurgitation.

D. Driscoll, V. Michels, L. Beauchesne, 2003, American Journal of Cardiology.

Risk of hepatoblastoma in familial adenomatous polyposis.

V. Michels, L. J. Hughes, Linda J. Hughes, 1992, American journal of medical genetics.

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.

M. Patterson, D. Babovic‐Vuksanovic, K. Snow, 1998, American journal of medical genetics.

Genetic and environmental explanations for the distribution of sodium-lithium countertransport in pedigrees from Rochester, MN.

T. Rebbeck, S. Turner, V. Michels, 1991, American journal of human genetics.

Cholesteryl Lignocerate Hydrolysis in Adrenoleukodystrophy

A. Beaudet, V. Michels, 1980, Pediatric Research.

Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients.

M. Burritt, V. Balan, G. Klee, 1994, Gastroenterology.

Arginase deficiency in multiple tissues in argininemia

A. Beaudet, V. Michels, 1978, Clinical genetics.

Familial dilated cardiomyopathy.

L. Mestroni, W. Edwards, F. Miller, 1984, The American journal of cardiology.

Familial aggregation of idiopathic dilated cardiomyopathy.

D. Driscoll, F. Miller, V. Michels, 1985, The American journal of cardiology.

Histopathology of familial versus nonfamilial dilated cardiomyopathy

A. Tajik, D. Driscoll, R. Rodeheffer, 1993 .

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

A. Munnich, S. Thibodeau, K. Devriendt, 2000, Human Genetics.

Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.

V. Michels, G. Pastores, W. Su, 1990, The Journal of pediatrics.

Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin

D. Babovic‐Vuksanovic, K. Snow, V. Michels, 2000, Genetics in Medicine.

Circulating heart autoantibodies in familial as compared with nonfamilial idiopathic dilated cardiomyopathy.

S. Thibodeau, D. Driscoll, R. Rodeheffer, 1994, Mayo Clinic proceedings.

Familial recurrence of tracheoesophageal fistula and associated malformations.

V. Michels, K. Mcmullen, P. Karnes, 1996, American journal of medical genetics.

Complex segregation analysis of nonsyndromic cleft lip and palate.

K. Buetow, J. Hecht, V. Michels, 1991, American journal of human genetics.

Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

J. F. Keane, L. Kidd, R. Wolfe, 1993, Circulation.

Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: a role for laparoscopic and cortical-sparing surgery.

M. Baghai, G. Thompson, C. Grant, 2002, Archives of surgery.

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

S. Thibodeau, M. Keating, Y. Tai, 1998, Science.

Screening for Hemochromatosis: A Based on 12,258 Patients Cost-Effectiveness Study

M. Burritt, V. Balan, V. Michels, 1994 .

Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries.

V. Michels, R. Feldt, F. J. Puga, 1992, Pediatrics.

Dystrophin analysis in idiopathic dilated cardiomyopathy.

L. Kunkel, D. Driscoll, A. Beggs, 1993, Journal of medical genetics.

Phenylketonuria and Hyperphenylalaninemia

V. Michels, 1987 .

Brief report: a familial syndrome of arterial dissections with lentiginosis.

B. Mokri, W. Schievink, D. Piepgras, 1995, The New England journal of medicine.

Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

S. Thibodeau, K. Csiszȧr, H. Donis-Keller, 1999, Human Genetics.

Familial aneurysmal subarachnoid hemorrhage: a community-based study.

D. Schaid, W. Schievink, D. Piepgras, 1995, Journal of neurosurgery.

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

J. Milunsky, V. Michels, A. Milunsky, 2001, American journal of medical genetics.

Usual interstitial pneumonia complicating dyskeratosis congenita.

J. Myers, J. Ryu, V. Michels, 2005, Mayo Clinic proceedings.

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7.

J. Weber, D. Schaid, S. Thibodeau, 1993, Human molecular genetics.

Heritable connective tissue disorders in cervical artery dissections: A prospective study

J. Vockley, W. Schievink, V. Michels, 1998, Neurology.

The natural history and spectrum of idiopathic dilated cardiomyopathy, including HIV and peripartum cardiomyopathy.

V. Michels, F. Cetta, 1995, Current opinion in cardiology.

Neurofibromatosis with involvement of the prostate gland.

A. K. Chung, J. Oesterling, G. Poland, 1996, Urology.

On the Inheritance of Intracranial Aneurysms

D. Schaid, W. Schievink, D. Piepgras, 1994, Stroke.

Prevalence of significant congenital heart defects in children of parents with Fallot's tetralogy.

D. Driscoll, V. Michels, T. Zellers, 1990, The American journal of cardiology.

Fragile sites on human chromosomes: description and clinical significance.

V. Michels, 1985, Mayo Clinic proceedings.

Progress in defining the causes of idiopathic dilated cardiomyopathy.

V. Michels, 1993, The New England journal of medicine.

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop.

W. Abelmann, T. Manolio, J. Bristow, 1992, The American journal of cardiology.

Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients

D. Babovic‐Vuksanovic, R. Ketterling, V. Michels, 2003, Genetics in Medicine.

Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.

W. Dobyns, G. Dewald, V. Michels, 1985, American journal of medical genetics.

Neutropenia and impaired neutrophil migration in type IB glycogen storage disease.

A. Beaudet, D. Anderson, A. Lange, 1980, The Journal of pediatrics.

Frequency of congenital heart defects in patients with hemophilia.

H. Gordon, V. Michels, G. Gilchrist, 1990, American journal of medical genetics.

Occurrence of congenital heart defects in siblings of patients with univentricular heart and tricuspid atresia.

D. Driscoll, V. Michels, T. Weigel, 1989, The American journal of cardiology.

Frequency of familial dilated cardiomyopathy.

D. Schaid, A. Tajik, D. Driscoll, 1995, European heart journal.

Levels of lipids, lipoproteins, and apolipoproteins in a defined population.

W. Weidman, V. Michels, P. Moll, 1991, Mayo Clinic proceedings.

Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy.

W. Edwards, G. Reeder, R. Howell, 1984, The American journal of cardiology.

DNA fluorescent probes for diagnosis of velocardiofacial and related syndromes.

D. Driscoll, G. Dewald, V. Michels, 1995, Mayo Clinic proceedings.

Rapid detection of mutations by conformation-sensitive gel electrophoresis. Application to the identification of a fourth family with the Arg519→Cys substitution and three new mutations in the type II procollagen gene

D. Prockop, M. Rock, A. Ganguly, 1994 .

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.

D. Prockop, A. Ganguly, V. Michels, 1996, American journal of medical genetics.

Dexamethasone : An “ Old New ” Glucocorticoid on the Horizon !

B. Heese, V. Michels, A. Reed, 2006 .

Cleft lip and palate: no evidence of linkage to transforming growth factor alpha.

S. Daiger, S. Blanton, J. Hecht, 1991, American journal of human genetics.

Autosomal dominant supravalvular aortic stenosis: large three-generation family.

D. Hagler, V. Michels, R. Feldt, 1989, American journal of medical genetics.

Pulmonary vascular obstruction associated with cholesteryl ester storage disease.

A. Beaudet, D. Driscoll, D. Duff, 1979, The Journal of pediatrics.

Familial paragangliomas of the head and neck.

F. Meyer, D. Piepgras, T. Mccaffrey, 1994, Archives of otolaryngology--head & neck surgery.

S. Kirmani, V. Michels, F. Cetta, 2013, American journal of medical genetics. Part A.

Ornithine transcarbamylase deficiency: long‐term survival

A. Beaudet, M. Walser, V. Michels, 1982, Clinical genetics.

Variable expression in ankyloblepharon-ectodermal defects-cleft lip and palate syndrome.

J. Doyle, V. Michels, S. Greene, 1987, American journal of medical genetics.

A clefting syndrome with ocular anterior chamber defect and lid anomalies.

A. Beaudet, V. Michels, H. M. Hittner, 1978, The Journal of pediatrics.

Diagnostic criteria for Walker-Warburg syndrome.

L B Holmes, F Greenberg, J. Opitz, 1989, American journal of medical genetics.

Rothmund‐Thomson syndrome in siblings: evidence for acquired in vivo mosaicism

S. Thibodeau, L. Kvols, N. Lindor, 1996, Clinical genetics.

Thumb duplication and contralateral thumb hypoplasia in infant of mother with diabetes.

J. Dobyns, R. Nelson, V. Michels, 1991, The Journal of hand surgery.

Recurrent Miscarriages: Cytogenetic Causes and Genetic Counseling of Affected Families

G. Dewald, V. Michels, 1986, Clinical obstetrics and gynecology.

Asplenia in two father-son pairs.

J. Opitz, N. Lindor, V. Michels, 1995, American journal of medical genetics.

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

E. Thorland, N. Lindor, D. Dawson, 2003, American journal of human genetics.

The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

A. Tajik, D. Driscoll, R. Rodeheffer, 1992, The New England journal of medicine.

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

H. Freeze, M. Patterson, J. Vockley, 1999, The Journal of pediatrics.

Uniparental disomy in congenital disorders: a prospective study.

S. Thibodeau, N. Lindor, G. Dewald, 1995, American journal of medical genetics.

Chromosome translocations in couples with multiple spontaneous abortions.

V. Venne, V. Riccardi, V. Michels, 1982, American journal of human genetics.

Duplication of part of chromosome 1q: clinical report and review of literature.

G. Dewald, C. Berseth, V. Michels, 1984, American journal of medical genetics.

Physical mapping of a translocation breakpoint in neurofibromatosis.

F. Collins, J. Gusella, B. Seizinger, 1989, Science.

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.

P. Rinaldo, D. Matern, S. Tortorelli, 2013, Molecular genetics and metabolism.

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis.

S. Thibodeau, K. Csiszȧr, D. Driscoll, 1995, Human molecular genetics.

Hemorrhagic pancreatitis in a patient with glycogen storage disease type I

A. Beaudet, V. Michels, 1980, Clinical Genetics.

A Novel Mutation in KVLQT1 Is the Molecular Basis of Inherited Long QT Syndrome in a Near-Drowning Patient's Family

D. Schaid, S. Thibodeau, M. Ackerman, 1998, Pediatric Research.

The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

D. Schaid, S. Thibodeau, S. McDonnell, 2001, American journal of human genetics.

TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.

Michael T. Zimmermann, E. Wieben, M. de Andrade, 2014, Human molecular genetics.

Phenotype associated with ring 10 chromosome: report of patient and review of literature.

D. Ledbetter, D. Driscoll, V. Riccardi, 1981, American journal of medical genetics.

Genetic testing: practical, ethical, and counseling considerations.

V. Michels, R. Ensenauer, S. S. Reinke, 2005, Mayo Clinic proceedings.

The genomic organization of human dystrobrevin

D. Schaid, L. Kunkel, S. Thibodeau, 1997, Neurogenetics.

Craniofrontonasal dysostosis with deafness and axillary pterygia.

V. Michels, D. Derleth, A. Hoffman, 1989, American journal of medical genetics.

Neutropenia and impaired neutrophil in type IB glycogen storage disease migration

A. Beaudet, A. Lange, V. Michels, 1980 .

Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1.

D. Schaid, S. Thibodeau, S. McDonnell, 1998, Cancer research.

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

Jeffrey L. Anderson, R. Rodeheffer, Sandra P. Reyna, 2005, JAMA.

The Genetic Basis of Human Cancer

V. Michels, Virginia V. Michels, 1999 .

Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2.

C. Jack, V. Michels, G. Pastores, 1991, American journal of medical genetics.

Spectrum of Findings in a Family with Nonsyndromic Autosomal Dominant Supravalvular Aortic Stenosis: A Doppler Echocardiographic Study

D. Hagler, V. Michels, R. Feldt, 1989, Journal of the American College of Cardiology.

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

E. Thorland, V. Michels, D. V. Van Dyke, 2006, American journal of medical genetics. Part A.

Melorheostosis in a patient with familial osteopoikilosis.

W. Cooney, N. Lindor, V. Michels, 1997, American journal of medical genetics.

Delineation of the cryptic 1qter deletion phenotype

J. Merritt, V. Michels, S. Jalal, 2007, American journal of medical genetics. Part A.

Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy

Asha A. Nair, E. Wieben, H. Chai, 2011, Circulation. Cardiovascular genetics.

Familial paragangliomas: linkage to chromosome 11q23 and clinical implications.

J. Milunsky, A. DeStefano, C. Baldwin, 1997, American journal of medical genetics.

Familial cavernous malformations of the central nervous system and retina

G. Forbes, E. Laws, B. Mokri, 1987, Annals of neurology.

Carrier identification of cystic fibrosis by recombinant DNA techniques.

D. Schaid, S. Thibodeau, D. Dawson, 1989, Mayo Clinic proceedings.

Subspecialty Clinics: Medical Genetics Carrier Identification of Cystic Fibrosis by Recombinant

D. Schaid, S. Thibodeau, D. Dawson, 1989 .

The autoimmune basis of dilated cardiomyopathy.

V. Michels, F. Cetta, 1995, Annals of medicine.

Mucolipidosis II: unusual presentation with a congenital angulated fracture

C. Caskey, V. Michels, R. Dutton, 1982, Clinical genetics.

A familial syndrome with cutaneous malignant melanoma and cerebral astrocytoma

J. Parisi, V. Michels, D. Kimmel, 1993, Neurology.

Basal cell carcinoma in a patient with intestinal polyposis

V. Michels, J. C. Stevens, 1982, Clinical genetics.

Linkage of nonspecific X-linked mental retardation to Xq21.31.

D. Schaid, S. Thibodeau, V. Michels, 1992, American journal of medical genetics.

Treatment of phenylketonuria during pregnancy

V. Michels, Cynthia L. Justice, 1982, Clinical genetics.

Cytogenetic testing for Williams syndrome.

V. Michels, P. Karnes, S. Jalal, 1996, Mayo Clinic proceedings.

Genetics of familial dilated cardiomyopathy

V. Michels, T. Olson, S. Menon, 2008 .

Chromosome abnormalities in preleukemic or myelodysplastic syndromes.

V. Michels, H. Hoagland, 1985, Mayo Clinic proceedings.

Congenital Metabolic Diseases: Diagnosis and Treatment

V. Michels, 1986 .

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.

F. Whitby, V. Michels, T. Olson, 2001, Journal of molecular and cellular cardiology.

Genetic determination of plasma apolipoprotein AI in a population-based sample.

W. Weidman, V. Michels, P. Moll, 1989, American journal of human genetics.

Tracking and prediction of blood pressure in children.

E. Bergstralh, W. O'Fallon, W. Weidman, 1987, Mayo Clinic proceedings.

Chapter 4 – Von Hippel–Lindau Disease

V. Michels, 1987 .

Severe Hajdu-Cheney syndrome with upper airway obstruction.

M. Patterson, V. Michels, P. A. Crifasi, 1997, American journal of medical genetics.

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

D. Driscoll, N. Lindor, G. Dewald, 1992, American journal of medical genetics.

Distribution of sodium-lithium countertransport and blood pressure in Caucasians five to eighty-nine years of age.

C. Sing, S. Turner, W. Weidman, 1989, Hypertension.

Microsatellite Instabifity in Colorectal Cancer : Different Mutator Phenotypes and the Principal Involvement of hMLHJ 1

D. Schaid, S. Thibodeau, S. McDonnell, 2006 .

Refined gene localization for MRX7.

S. Thibodeau, C. Schwartz, V. Michels, 1999, American journal of medical genetics.

Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy.

D. Driscoll, K. Ballman, F. Miller, 2003, The American journal of cardiology.

Familial dermographism.

V. Michels, K. Jedele, 1991, American journal of medical genetics.

Treatment of OTC deficiency.

A. Beaudet, V. Michels, 1983, The Journal of pediatrics.

Confirmation of linkage of supravalvular aortic stenosis to the elastin gene on chromosome 7q.

D. Schaid, S. Thibodeau, M. Wallace, 1994, The American journal of cardiology.

Sodium‐Lithium Countertransport and Hypertension in Rochester, Minnesota

S. Turner, V. Michels, S. Turner, 1991, Hypertension.

Guidelines for buccal smear collection in breast-fed infants.

N. Lindor, D. Babovic‐Vuksanovic, R. Bailey, 1999, American journal of medical genetics.

Maternal cell contamination of buccal smear samples in nursing neonates

N. Lindor, D. Babovic‐Vuksanovic, V. Michels, 1998, Clinical Genetics.

Exclusion of a primary gene defect at the HLA locus in familial idiopathic dilated cardiomyopathy.

D. Schaid, S. Thibodeau, P. Lundquist, 1995, Journal of medical genetics.

The Genetic Basis of Human Cancer

V. Michels, 1999 .

Mendelian and Mitochondrial Inheritance, Gene Identification, and Clinical Testing

S. Thibodeau, E. Thorland, V. Michels, 2005 .

Neurofibromatosis type 1 with bilateral acoustic neuromas.

J. Whisnant, V. Michels, J. Garrity, 1989, Neurofibromatosis.

Glycogen storage disease: long‐term follow‐up of nocturnal intragastric feeding

A. Beaudet, V. Michels, C. Montandon, 1982, Clinical genetics.

Screening for Biotinidase Deficiency in Children with Unexplained Neurologic or Developmental Abnormalities

V. Michels, J. O'brien, M. A. Schmidt, 1991, Clinical pediatrics.

Pheochromocytomas and paragangliomas in von Hippel-Lindau disease: a role for laparoscopic and cortical-sparing surgery.

G. Thompson, C. Grant, J. V. van Heerden, 2002, Archives of surgery.