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Anti-oncogenic effects of tropomyosin: isoform specificity and importance of protein coding sequences
Anti-oncogenic effects of tropomyosin: isoform specificity and importance of protein coding sequences
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Anti-oncogenic effects of tropomyosin: isoform specificity and importance of protein coding sequences

Braverman, R H ; Cooper, H L ; Lee, H S ; Prasad, G L

Oncogene, 1996-08, Vol.13 (3), p.537-545 [Periódico revisado por pares]

England

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2
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
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Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

LINDSAY, Mark E ; SCHEPERS, Dorien ; BJEDA, Djahita ; OSWALD, Gretchen ; ELIAS, Abdallah F ; LEVY, Howard P ; ANDERLID, Britt-Marie ; YANG, Margaret H ; BONGERS, Ernie M. H. F ; TIMMERMANS, Janneke ; BRAVERMAN, Alan C ; CANHAM, Natalie ; BOLAR, Nikhita Ajit ; MORTIER, Geert R ; BRUNNER, Han G ; BYERS, Peter H ; VAN EYK, Jennifer ; VAN LAER, Lut ; DIETZ, Harry C ; LOEYS, Bart L ; DOYLE, Jefferson J ; GALLO, Elena ; FERT-BOBER, Justyna ; KEMPERS, Marlies J. E ; FISHMAN, Elliot K ; YICHUN CHEN ; MYERS, Loretha

Nature genetics, 2012-08, Vol.44 (8), p.922-927 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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3
The revised Ghent nosology for the Marfan syndrome
The revised Ghent nosology for the Marfan syndrome
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The revised Ghent nosology for the Marfan syndrome

Loeys, Bart L ; Dietz, Harry C ; Braverman, Alan C ; Callewaert, Bert L ; De Backer, Julie ; Devereux, Richard B ; Hilhorst-Hofstee, Yvonne ; Jondeau, Guillaume ; Faivre, Laurence ; Milewicz, Dianna M ; Pyeritz, Reed E ; Sponseller, Paul D ; Wordsworth, Paul ; De Paepe, Anne M

Journal of medical genetics, 2010-07, Vol.47 (7), p.476-485 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Vockley, Jerry ; Andersson, Hans C ; Antshel, Kevin M ; Braverman, Nancy E ; Burton, Barbara K ; Frazier, Dianne M ; Mitchell, John ; Smith, Wendy E ; Thompson, Barry H ; Berry, Susan A

Genetics in medicine, 2014-02, Vol.16 (2), p.188-200 [Periódico revisado por pares]

United States: Elsevier Limited

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5
MYC promotes tryptophan uptake and metabolism by the kynurenine pathway in colon cancer
MYC promotes tryptophan uptake and metabolism by the kynurenine pathway in colon cancer
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MYC promotes tryptophan uptake and metabolism by the kynurenine pathway in colon cancer

Venkateswaran, Niranjan ; Lafita-Navarro, M Carmen ; Hao, Yi-Heng ; Kilgore, Jessica A ; Perez-Castro, Lizbeth ; Braverman, Jonathan ; Borenstein-Auerbach, Nofit ; Kim, Min ; Lesner, Nicholas P ; Mishra, Prashant ; Brabletz, Thomas ; Shay, Jerry W ; DeBerardinis, Ralph J ; Williams, Noelle S ; Yilmaz, Omer H ; Conacci-Sorrell, Maralice

Genes & development, 2019-09, Vol.33 (17-18), p.1236-1251 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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6
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

BOILEAU, Catherine ; GUO, Dong-Chuan ; BRAVERMAN, Alan C ; GRANDCHAMP, Bernard ; KWARTLER, Callie S ; GOUYA, Laurent ; SANTOS-CORTEZ, Regie Lyn P ; ABIFADEL, Marianne ; LEAL, Suzanne M ; MUTI, Christine ; SHENDURE, Jay ; GROSS, Marie-Sylvie ; HANNA, Nadine ; RIEDER, Mark J ; VAHANIAN, Alec ; NICKERSON, Deborah A ; MICHEL, Jean Baptiste ; JONDEAU, Guillaume ; MILEWICZ, Dianna M ; REGALADO, Ellen S ; DETAINT, Delphine ; LIMIN GONG ; VARRET, Mathilde ; PRAKASH, Siddharth K ; LI, Alexander H ; D'INDY, Hyacintha

Nature genetics, 2012-08, Vol.44 (8), p.916-921 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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7
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association
Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association
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Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association

Silberbach, Michael ; Roos-Hesselink, Jolien W ; Andersen, Niels H ; Braverman, Alan C ; Brown, Nicole ; Collins, R Thomas ; De Backer, Julie ; Eagle, Kim A ; Hiratzka, Loren F ; Johnson, Jr, Walter H ; Kadian-Dodov, Daniella ; Lopez, Leo ; Mortensen, Kristian H ; Prakash, Siddharth K ; Ratchford, Elizabeth V ; Saidi, Arwa ; van Hagen, Iris ; Young, Luciana T

Circulation. Genomic and precision medicine, 2018-10, Vol.11 (10), p.e000048-e000048 [Periódico revisado por pares]

United States

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8
hitchhiking effect on the site frequency spectrum of DNA polymorphisms
hitchhiking effect on the site frequency spectrum of DNA polymorphisms
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hitchhiking effect on the site frequency spectrum of DNA polymorphisms

Braverman, J.M ; Hudson, R.R ; Kaplan, N.L ; Langley, C.H ; Stephan, W

Genetics (Austin), 1995-06, Vol.140 (2), p.783-796 [Periódico revisado por pares]

United States: Genetics Soc America

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9
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
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Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder

Falkenberg, Kim D. ; Braverman, Nancy E. ; Moser, Ann B. ; Steinberg, Steven J. ; Klouwer, Femke C.C. ; Schlüter, Agatha ; Ruiz, Montserrat ; Pujol, Aurora ; Engvall, Martin ; Naess, Karin ; van Spronsen, FrancJan ; Körver-Keularts, Irene ; Rubio-Gozalbo, M. Estela ; Ferdinandusse, Sacha ; Wanders, Ronald J.A. ; Waterham, Hans R.

American journal of human genetics, 2017-12, Vol.101 (6), p.965-976 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis
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Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

Buchan, Jillian G ; Alvarado, David M ; Haller, Gabe E ; Cruchaga, Carlos ; Harms, Matthew B ; Zhang, Tianxiao ; Willing, Marcia C ; Grange, Dorothy K ; Braverman, Alan C ; Miller, Nancy H ; Morcuende, Jose A ; Tang, Nelson Leung-Sang ; Lam, Tsz-Ping ; Ng, Bobby Kin-Wah ; Cheng, Jack Chun-Yiu ; Dobbs, Matthew B ; Gurnett, Christina A

Human molecular genetics, 2014-10, Vol.23 (19), p.5271-5282 [Periódico revisado por pares]

England: Oxford University Press

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