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Research Output 1976 2020

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Article
2020

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In : Human mutation. 41, 1, p. 299-315 17 p.

Research output: Contribution to journalArticle

Open Access
Neurofibroma
Neurofibromatosis 1
Plexiform Neurofibroma
Optic Nerve Glioma
Cardiovascular Abnormalities
2019

Cardiac transplantation in children with Noonan syndrome

McCallen, L. M., Ameduri, R. K., Denfield, S. W., Dodd, D. A., Everitt, M. D., Johnson, J. N., Lee, T. M., Lin, A. E., Lohr, J. L., May, L. J., Pierpont, M. E., Stevenson, D. A. & Chatfield, K. C., Jan 1 2019, In : Pediatric transplantation. 23, 6, e13535.

Research output: Contribution to journalArticle

Noonan Syndrome
Heart Transplantation
Transplantation
Transplants
Child Mortality

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

DDD Study, Dec 1 2019, In : Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

Research output: Contribution to journalArticle

Open Access
Drosophila
Genes
RNA Sequence Analysis
Biological Phenomena
Memory Disorders
Noonan Syndrome
Neurofibromatoses
Neurofibromatosis 1
Siblings
Attention Deficit Disorder with Hyperactivity
8 Citations (Scopus)

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Phenotype
Neurofibroma
Skin
3 Citations (Scopus)

Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome

Pediatric Heart Network Investigators & New England Research Institutes, Jan 2019, In : Journal of Pediatrics. 204, p. 250-255.e1

Research output: Contribution to journalArticle

Marfan Syndrome
Young Adult
Quality of Life
Ectopia Lentis
Pediatrics

Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome

Bu, L., Chen, J., Nelson, A. C., Katz, A., Kashtan, C., Kim, Y. & Pierpont, M. E. M., Jul 2019, In : Kidney International Reports. 4, 7, p. 1031-1035 5 p.

Research output: Contribution to journalArticle

Open Access
Hereditary Nephritis
Mosaicism
2018
21 Citations (Scopus)

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

The University of Washington Center for Mendelian Genomics, Feb 1 2018, In : American Journal of Human Genetics. 102, 2, p. 309-320 12 p.

Research output: Contribution to journalArticle

Open Access
Phenotype
Mutation
Noonan Syndrome
Exome
Monomeric GTP-Binding Proteins
4 Citations (Scopus)

Influence of Aortic Stiffness on Aortic-Root Growth Rate and Outcome in Patients With the Marfan Syndrome

Pediatric Heart Network Investigators, May 1 2018, In : American Journal of Cardiology. 121, 9, p. 1094-1101 8 p.

Research output: Contribution to journalArticle

Open Access
Marfan Syndrome
Vascular Stiffness
Elastic Modulus
Growth
Atenolol
3 Citations (Scopus)
Open Access
Congenital Disorders of Glycosylation
Mosaicism
Transferrin
Mutation
Growth Hormone
2 Citations (Scopus)

Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome

Pediatric Heart Network Investigators, Oct 1 2018, In : Pediatric Cardiology. 39, 7, p. 1453-1461 9 p.

Research output: Contribution to journalArticle

Open Access
Marfan Syndrome
Dilatation
Referral and Consultation
Atenolol
Sensitivity and Specificity
2 Citations (Scopus)

Restrictive cardiomyopathy: An unusual phenotype of a lamin a variant

Paller, M. S., Martin, C. M. & Pierpont, M. E., Aug 2018, In : ESC Heart Failure. 5, 4, p. 724-726 3 p.

Research output: Contribution to journalArticle

Open Access
Restrictive Cardiomyopathy
Lamins
Lamin Type A
Muscle Weakness
Skeletal Muscle
5 Citations (Scopus)
Open Access
Noonan Syndrome
Neurofibromatosis 1
Language
Attention Deficit Disorder with Hyperactivity
Siblings
2017
12 Citations (Scopus)

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

Whyte, M. P., McAlister, W. H., Fallon, M. D., Pierpont, M. E., Bijanki, V. N., Duan, S., Otaify, G. A., Sly, W. S. & Mumm, S., Apr 2017, In : Journal of Bone and Mineral Research. 32, 4, p. 757-769 13 p.

Research output: Contribution to journalArticle

Genetic Databases
Mutation
Missense Mutation
Siblings
Craniosynostoses
2 Citations (Scopus)

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation

Pierpont, M. E. M., Richards, M., Engel, W. K., Mendelsohn, N. J. & Summers, C. G., May 2017, In : American Journal of Medical Genetics, Part A. 173, 5, p. 1342-1347 6 p.

Research output: Contribution to journalArticle

Costello Syndrome
Retinal Dystrophies
Mutation
Failure to Thrive
Photophobia
3 Citations (Scopus)
Mutation
Intellectual Disability
Mitogen-Activated Protein Kinases
Noonan Syndrome
Learning Disorders
2016
28 Citations (Scopus)

A specific mutation in TBL1XR1 causes Pierpont syndrome

Heinen, C. A., Jongejan, A., Watson, P. J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., Pierpont, M. E., Schaefer, G. B., Stewart, F., van Trotsenburg, A. S. P., Fliers, E., Schwabe, J. W. R. & Hennekam, R. C., Jan 14 2016, In : Journal of Medical Genetics. 53, 5, p. 330-337 8 p.

Research output: Contribution to journalArticle

Autistic Disorder
Mutation
Messenger RNA
Lymphocytes
Transducin
2015
43 Citations (Scopus)

Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases

Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., Allanson, J., Brunner, H., Bertola, D., Chassaing, N., David, A., Devriendt, K., Eftekhari, P., Drouin-Garraud, V., Faravelli, F., Faivre, L., Giuliano, F., Guion Almeida, L., Juncos, J., Kempers, M. & 32 others, Eker, H. K., Lacombe, D., Lin, A., Mancini, G., Melis, D., Lourenço, C. M., Siu, V. M., Morin, G., Nezarati, M., Nowaczyk, M. J. M., Ramer, J. C., Osimani, S., Philip, N., Pierpont, M. E., Procaccio, V., Roseli, Z. S., Rossi, M., Rusu, C., Sznajer, Y., Templin, L., Uliana, V., Klaus, M., Van Bon, B., Van Ravenswaaij, C., Wainer, B., Fry, A. E., Rump, A., Hoischen, A., Drunat, S., Rivière, J. B., Dobyns, W. B. & Pilz, D. T., Mar 1 2015, In : European Journal of Human Genetics. 23, 3, p. 292-301 10 p.

Research output: Contribution to journalArticle

Lissencephaly
Actins
Mutation
Arthrogryposis
Hallux
2014
231 Citations (Scopus)

Atenolol versus losartan in children and young adults with Marfan's syndrome

Lacro, R. V., Dietz, H. C., Sleeper, L. A., Yetman, A. T., Bradley, T. J., Colan, S. D., Pearson, G. D., Selamet Tierney, E. S., Levine, J. C., Atz, A. M., Benson, D. W., Braverman, A. C., Chen, S., De Backer, J., Gelb, B. D., Grossfeld, P. D., Klein, G. L., Lai, W. W., Liou, A., Loeys, B. L. & 13 others, Markham, L. W., Olson, A. K., Paridon, S. M., Pemberton, V. L., Pierpont, M. E., Pyeritz, R. E., Radojewski, E., Roman, M. J., Sharkey, A. M., Stylianou, M. P., Wechsler, S. B., Young, L. T. & Mahony, L., Nov 27 2014, In : New England Journal of Medicine. 371, 22, p. 2061-2071 11 p.

Research output: Contribution to journalArticle

Marfan Syndrome
Atenolol
Losartan
Young Adult
Dissection
2013
42 Citations (Scopus)

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Lacro, R. V., Guey, L. T., Dietz, H. C., Pearson, G. D., Yetman, A. T., Gelb, B. D., Loeys, B. L., Benson, D. W., Bradley, T. J., De Backer, J., Forbus, G. A., Klein, G. L., Lai, W. W., Levine, J. C., Lewin, M. B., Markham, L. W., Paridon, S. M., Pierpont, M. E., Radojewski, E., Selamet Tierney, E. S. & 3 others, Sharkey, A. M., Wechsler, S. B. & Mahony, L., May 2013, In : American Heart Journal. 165, 5, p. 828-835.e3

Research output: Contribution to journalArticle

Marfan Syndrome
Atenolol
Losartan
Dilatation
Young Adult
2011
19 Citations (Scopus)

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome

Sanchez-Valle, A., Pierpont, M. E. M. & Potocki, L., Feb 1 2011, In : American Journal of Medical Genetics, Part A. 155, 2, p. 363-366 4 p.

Research output: Contribution to journalArticle

Hypoplastic Left Heart Syndrome
Failure to Thrive
Muscle Hypotonia
Comparative Genomic Hybridization
Congenital Heart Defects
2010
30 Citations (Scopus)

A novel microdeletion/microduplication syndrome of 19p13.13

Dolan, M. M., Mendelsohn, N. J., Pierpont, M. E. M., Schimmenti, L. A., Berry, S. A. & Hirsch, B. A., Aug 1 2010, In : Genetics in Medicine. 12, 8, p. 503-511 9 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Megalencephaly
Microcephaly
Developmental Disabilities
Fluorescence In Situ Hybridization
20 Citations (Scopus)

Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

Pierpont, R., Pierpont, M. E. M., Mendelsohn, N. J., Roberts, A. E., Tworog-Dube, E., Rauen, K. A. & Seidenberg, M. S., Mar 1 2010, In : American Journal of Medical Genetics, Part A. 152, 3, p. 591-600 10 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Germ-Line Mutation
Psychological Adaptation
Mitogen-Activated Protein Kinases
Genes
1 Citation (Scopus)

Is there an association between bicuspid aortic valve and neuroblastoma?

Stefanski, H. E., Wedel, L., Haller, C., Pierpont, M. E. M. & Perkins, J. L., Aug 1 2010, In : Pediatric Blood and Cancer. 55, 2, p. 359-360 2 p.

Research output: Contribution to journalArticle

Neuroblastoma
Congenital Heart Defects
Population
Bicuspid Aortic Valve
Heart Diseases
18 Citations (Scopus)

The language phenotype of children and adolescents with noonan syndrome

Pierpont, E. I., Weismer, S. E., Roberts, A. E., Tworog-Dube, E., Pierpont, M. E., Mendelsohn, N. J. & Seidenberg, M. S., Aug 1 2010, In : Journal of Speech, Language, and Hearing Research. 53, 4, p. 917-932 16 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Child Language
Language
adolescent
Phenotype
2009
54 Citations (Scopus)

Genotype differences in cognitive functioning in Noonan syndrome

Pierpont, E. I., Pierpont, M. E., Mendelsohn, N. J., Roberts, A. E., Tworog-Dube, E. & Seidenberg, M. S., Apr 1 2009, In : Genes, Brain and Behavior. 8, 3, p. 275-282 8 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Genotype
Mutation
Heart Diseases
Inborn Genetic Diseases
2008
2 Citations (Scopus)

Giant cell aortitis and Noonan Syndrome

Menon, S., Pierpont, M. E. & Driscoll, D., Jul 1 2008, In : Congenital Heart Disease. 3, 4, p. 291-294 4 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Takayasu Arteritis
Giant Cell Arteritis
Dilatation
Giant Cell Granuloma
31 Citations (Scopus)

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

McAlinden, A., Majava, M., Bishop, P. N., Perveen, R., Black, G. C. M., Pierpont, M. E. M., Ala-Kokko, L. & Männikkö, M., Jan 1 2008, In : Human mutation. 29, 1, p. 83-90 8 p.

Research output: Contribution to journalArticle

Nonsense Codon
Missense Mutation
Exons
Protein Isoforms
Mutation
2007
197 Citations (Scopus)

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation

Upadhyaya, M., Huson, S. M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D. G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J. P., Stevenson, D. & 7 others, Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C. & Messiaen, L., Jan 2007, In : American Journal of Human Genetics. 80, 1, p. 140-151 12 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1 Genes
Neurofibroma
Neurofibromatosis 1
Genetic Association Studies
Exons
90 Citations (Scopus)

Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms

Shaikh, T. H., O'Connor, R. J., Pierpont, M. E., McGrath, J., Hacker, A. M., Nimmakayalu, M., Geiger, E., Emanuel, B. S. & Saitta, S. C., Apr 1 2007, In : Genome research. 17, 4, p. 482-491 10 p.

Research output: Contribution to journalArticle

Genomic Segmental Duplications
Chromosome Deletion
Sequence Analysis
DiGeorge Syndrome
Chromosome Disorders
2005
10 Citations (Scopus)

Identification Of AFLP markers associated with round heart syndrome in Turkeys

Paxton, C. N., Pierpont, M. E. & Kooyman, D. L., Jan 1 2005, In : International Journal of Poultry Science. 4, 3, p. 133-137 5 p.

Research output: Contribution to journalArticle

amplified fragment length polymorphism
heart
flocks
genetic polymorphism
Genetic Markers
81 Citations (Scopus)

TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome

Mcdermott, D. A., Bressan, M. C., He, J., Lee, J. S., Aftimos, S., Brueckner, M., Gilbert, F., Graham, G. E., Hannibal, M. C., Innis, J. W., Pierpont, M. E., Raas-Rothschild, A., Shanske, A. L., Smith, W. E., Spencer, R. H., St. John-Sutton, M. G., Van Maldergem, L., Waggoner, D. J., Weber, M. & Basson, C. T., Nov 1 2005, In : Pediatric Research. 58, 5, p. 981-986 6 p.

Research output: Contribution to journalArticle

Genetic Testing
Mutation
Upper Extremity
Genes
Holt-Oram syndrome
2003
210 Citations (Scopus)

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

Zhou, X. P., Waite, K. A., Pilarski, R., Hampel, H., Fernandez, M. J., Bos, C., Dasouki, M., Feldman, G. L., Greenberg, L. A., Ivanovich, J., Matloff, E., Patterson, A., Pierpont, M. E., Russo, D., Nassif, N. T. & Eng, C., Aug 1 2003, In : American Journal of Human Genetics. 73, 2, p. 404-411 8 p.

Research output: Contribution to journalArticle

Multiple Hamartoma Syndrome
PTEN Phosphohydrolase
Sequence Deletion
Phosphotransferases
Mutation
2001
5 Citations (Scopus)

22q11.2 microdeletions in adults with familial tetralogy of Fallot

Hokanson, J. S., Pierpont, M. E., Hirsch, B. & Moller, J. H., Jan 1 2001, In : Genetics in Medicine. 3, 1, p. 61-64 4 p.

Research output: Contribution to journalArticle

Tetralogy of Fallot
Survivors
Fluorescence In Situ Hybridization
Heart Diseases
Incidence
77 Citations (Scopus)

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

Boycott, K. M., Maybaum, T. A., Naylor, M. J., Weleber, R. G., Robitaille, J., Miyake, Y., Bergen, A. A. B., Pierpont, M. E., Pearce, W. G. & Bech-Hansen, N. T., Jan 1 2001, In : Human Genetics. 108, 2, p. 91-97 7 p.

Research output: Contribution to journalArticle

Mutation
Night Vision
Founder Effect
Strabismus
Myopia

Effects of dietary fat and carnitine on urine carnitine excretion in healthy dogs.

Sanderson, S. L., Osborne, C. A., Lulich, J. P., Gross, K. L., Lowry, S. R., Pierpont, M. E., Ogburn, P. N., Koehler, L. A., Swanson, L. L., Bird, K. A. & Ulrich, L. K., Jan 1 2001, In : Veterinary therapeutics : research in applied veterinary medicine. 2, 3, p. 181-192 12 p.

Research output: Contribution to journalArticle

Carnitine
carnitine
Dietary Fats
dietary fat
urine
14 Citations (Scopus)

Evaluation of urinary carnitine and taurine excretion in 5 cystinuric dogs with carnitine and taurine deficiency

Sanderson, S. L., Osborne, C. A., Lulich, J. P., Bartges, J. W., Pierpont, M. E. M., Ogburn, P. N., Koehler, L. A., Swanson, L. L., Bird, K. A. & Ulrich, L. K., Jan 1 2001, In : Journal of veterinary internal medicine. 15, 2, p. 94-100 7 p.

Research output: Contribution to journalArticle

Carnitine
carnitine
Taurine
taurine
excretion
10 Citations (Scopus)

Hydroxyl radical induced oxidation of 3-methoxy-4-hydroxy cinnamic acid (ferulic acid)

Pierpont, M. E. M., Breningstall, G. N., Stanley, C. A. & Singh, A., Jan 1 2001, In : Research on Chemical Intermediates. 27, 4-5, p. 519-527 9 p.

Research output: Contribution to journalArticle

ferulic acid
Hydroxyl Radical
Oxidation
Phenol
Electrons
80 Citations (Scopus)

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation

Zhao, F., Weismann, C. G., Satoda, M., Pierpont, M. E. M., Sweeney, E., Thompson, E. M. & Gelb, B. D., Jan 1 2001, In : American Journal of Human Genetics. 69, 4, p. 695-703 9 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Mutation
Neural Plate
Organ Specificity
Patent Ductus Arteriosus
2000
19 Citations (Scopus)

Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children

Marin-Garcia, J., Ananthakrishnan, R., Goldenthal, M. J. & Pierpont, M. E. M., Oct 13 2000, In : Journal of Inherited Metabolic Disease. 23, 6, p. 625-633 9 p.

Research output: Contribution to journalArticle

Cardiomyopathies
Newborn Infant
Mitochondrial DNA
Mutation
RNA, Transfer, Arg
32 Citations (Scopus)

Familial carnitine transporter defect: A treatable cause of cardiomyopathy in children

Pierpont, M. E. M., Breningstall, G. N., Stanley, C. A. & Singh, A., Jan 1 2000, In : American Heart Journal. 139, 2, p. S96-S106

Research output: Contribution to journalArticle

Carnitine
Cardiomyopathies
Dilated Cardiomyopathy
Coma
Hypoglycemia
32 Citations (Scopus)

Metabolic aspects of myocardial disease and a role for L-carnitine in the treatment of childhood cardiomyopathy

Helton, E., Darragh, R., Francis, P., Fricker, F. J., Jue, K., Koch, G., Mair, D., Pierpont, M. E., Prochazka, J. V., Linn, L. S. & Winter, S. C., Jun 1 2000, In : Pediatrics. 105, 6, p. 1260-1270 11 p.

Research output: Contribution to journalArticle

Carnitine
Cardiomyopathies
Therapeutics
Angiotensin-Converting Enzyme Inhibitors
Survival
189 Citations (Scopus)

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M. & Gelb, B. D., May 1 2000, In : Nature Genetics. 25, 1, p. 42-46 5 p.

Research output: Contribution to journalArticle

Patent Ductus Arteriosus
Neural Crest
Mutation
Transcription Factor AP-2
Dimerization
23 Citations (Scopus)

The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations

Marin-Garcia, J., Goldenthal, M. J., Ananthakrishnan, R. & Pierpont, M. E., Dec 2000, In : Journal of cardiac failure. 6, 4, p. 321-329 9 p.

Research output: Contribution to journalArticle

Mitochondrial Genes
Dilated Cardiomyopathy
Transfer RNA
Mitochondrial DNA
Mutation
5 Citations (Scopus)

Unbalanced 4;6 translocation and progressive renal disease

Pierpont, M. E. M., Hentges, A. S., Gears, L. J., Hirsch, B. & Sinaiko, A., Nov 27 2000, In : American Journal of Medical Genetics. 95, 3, p. 275-280 6 p.

Research output: Contribution to journalArticle

Kidney
Lip
Nose
Blepharophimosis
Blepharoptosis
1999
115 Citations (Scopus)

Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: More than just variants of joubert syndrome

Satran, D., Pierpont, M. E. M. & Dobyns, W. B., Oct 29 1999, In : American Journal of Medical Genetics. 86, 5, p. 459-469 11 p.

Research output: Contribution to journalArticle

Moclobemide
Brain Stem
Tooth
Dandy-Walker Syndrome
Encephalocele
52 Citations (Scopus)

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21

Satoda, M., Pierpont, M. E. M., Diaz, G. A., Bornemeier, R. A. & Gelb, B. D., Jun 15 1999, In : Circulation. 99, 23, p. 3036-3042 7 p.

Research output: Contribution to journalArticle

Patent Ductus Arteriosus
Chromosomes
Genes
Multifactorial Inheritance
Chromosome Mapping
252 Citations (Scopus)

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

Basson, C. T., Huang, T., Lin, R. C., Bachinsky, D. R., Weremowicz, S., Vaglio, A., Bruzzone, R., Quadrelli, R., Lerone, M., Romeo, G., Silengo, M., Pereira, A., Krieger, J., Mesquita, S. F., Kamisago, M., Morton, C. C., Pierpont, M. E. M., Müller, C. W., Seidman, J. G. & Seidman, C. E., Mar 16 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, 6, p. 2919-2924 6 p.

Research output: Contribution to journalArticle

Missense Mutation
Extremities
Mutation
DNA
Transcription Factors
13 Citations (Scopus)

Is age a contributory factor of mitochondrial bioenergetic decline and DNA defects in idiopathic dilated cardiomyopathy?

Marin-Garcia, J., Goldenthal, M. J., Pierpont, M. E. M., Ananthakrishnan, R. & Perez-Atayde, A., Jul 1 1999, In : Cardiovascular Pathology. 8, 4, p. 217-222 6 p.

Research output: Contribution to journalArticle

Dilated Cardiomyopathy
Mitochondrial DNA
Energy Metabolism
DNA
Enzymes