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1
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes
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Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes

Lisa T. Emrick Lauren Murphy; Alireza A Shamshirsaz; Rodrigo Ruano; Christopher I Cassady; Liu Liu; Fengqi Chang; V. Reid Sutton; Marilyn Li; Ignatia B Van den Veyver

American journal of medical genetics part. A Hoboken v. 164A, n. 10, p. 2633\20132637, 2014

Hoboken 2014

Acesso online. A biblioteca também possui exemplares impressos.

2
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
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Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

Ariadne R. Lima Barbara M Ferreira; Chaofan Zhang; Angad Jolly; Haowei Du; Janson J White; Moez Dawood; Tulio C Lins; Marcela A Chiabai; Ellen van Beusekom; Mara S Cordoba; Erica C. C. Caldas Rosa; Hulya Kayserili; Virginia Kimonis; Erica Wu; Cecilia Mellado; Vineet Aggarwal; Antonio Richieri-Costa; Décio Brunoni; Talyta M Canó; Alexander A. L Jorge; Chong Ae Kim; Rachel Honjo; Débora R Bertola; Raissa M Dandalo-Girardi; Yavuz Bayram; Alper Gezdirici; Elif Yilmaz-Gulec; Evren Gumus; Gülay C Yilmaz; Nobuhiko Okamoto; Hirofumi Ohashi; Zeynep Coban–Akdemir; Tadahiro Mitani; Shalini N Jhangiani; Donna M Muzny; Neysa A. P Regattieri; Robert Pogue; Rinaldo W Pereira; Paulo A Otto; Richard A Gibbs; Bassam R Ali; Hans van Bokhoven; Han G Brunner; V. Reid Sutton; James R Lupski; Angela M Vianna-Morgante; Claudia M. B Carvalho; Juliana F Mazzeu

Human Mutation v. 43, n. 7, p. 900-918, July 2022

Hoboken 2022

Acesso online. A biblioteca também possui exemplares impressos.

3
Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management
Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management
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Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management

Odom, John D ; Sutton, V Reid

Clinical chemistry (Baltimore, Md.), 2021-12, Vol.67 (12), p.1606-1617 [Periódico revisado por pares]

England: Oxford University Press

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4
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, Jennifer E ; Harel, Tamar ; Liu, Pengfei ; Rosenfeld, Jill A ; James, Regis A ; Coban Akdemir, Zeynep H ; Walkiewicz, Magdalena ; Bi, Weimin ; Xiao, Rui ; Ding, Yan ; Xia, Fan ; Beaudet, Arthur L ; Muzny, Donna M ; Gibbs, Richard A ; Boerwinkle, Eric ; Eng, Christine M ; Sutton, V. Reid ; Shaw, Chad A ; Plon, Sharon E ; Yang, Yaping ; Lupski, James R

The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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5
Asprosin, a Fasting-Induced Glucogenic Protein Hormone
Asprosin, a Fasting-Induced Glucogenic Protein Hormone
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Asprosin, a Fasting-Induced Glucogenic Protein Hormone

Romere, Chase ; Duerrschmid, Clemens ; Bournat, Juan ; Constable, Petra ; Jain, Mahim ; Xia, Fan ; Saha, Pradip K. ; Del Solar, Maria ; Zhu, Bokai ; York, Brian ; Sarkar, Poonam ; Rendon, David A. ; Gaber, M. Waleed ; LeMaire, Scott A. ; Coselli, Joseph S. ; Milewicz, Dianna M. ; Sutton, V. Reid ; Butte, Nancy F. ; Moore, David D. ; Chopra, Atul R.

Cell, 2016-04, Vol.165 (3), p.566-579 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing
Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing
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Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing

Almannai, Mohammed ; Marom, Ronit ; Sutton, V Reid

Current opinion in pediatrics, 2016-12, Vol.28 (6), p.694-699 [Periódico revisado por pares]

United States

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7
Asprosin is a centrally acting orexigenic hormone
Asprosin is a centrally acting orexigenic hormone
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Asprosin is a centrally acting orexigenic hormone

Duerrschmid, Clemens ; He, Yanlin ; Wang, Chunmei ; Li, Chia ; Bournat, Juan C ; Romere, Chase ; Saha, Pradip K ; Lee, Mark E ; Phillips, Kevin J ; Jain, Mahim ; Jia, Peilin ; Zhao, Zhongming ; Farias, Monica ; Wu, Qi ; Milewicz, Dianna M ; Sutton, V Reid ; Moore, David D ; Butte, Nancy F ; Krashes, Michael J ; Xu, Yong ; Chopra, Atul R

Nature medicine, 2017-12, Vol.23 (12), p.1444-1453 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
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Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

Alaimo, Joseph T ; Glinton, Kevin E ; Liu, Ning ; Xiao, Jing ; Yang, Yaping ; Reid Sutton, V ; Elsea, Sarah H

Genetics in medicine, 2020-09, Vol.22 (9), p.1560-1566 [Periódico revisado por pares]

United States: Elsevier Limited

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9
Nosology of genetic skeletal disorders: 2023 revision
Nosology of genetic skeletal disorders: 2023 revision
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Nosology of genetic skeletal disorders: 2023 revision

Unger, Sheila ; Ferreira, Carlos R. ; Mortier, Geert R. ; Ali, Houda ; Bertola, Débora R. ; Calder, Alistair ; Cohn, Daniel H. ; Cormier‐Daire, Valerie ; Girisha, Katta M. ; Hall, Christine ; Krakow, Deborah ; Makitie, Outi ; Mundlos, Stefan ; Nishimura, Gen ; Robertson, Stephen P. ; Savarirayan, Ravi ; Sillence, David ; Simon, Marleen ; Sutton, V. Reid ; Warman, Matthew L. ; Superti‐Furga, Andrea

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1164-1209 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination
Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination
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Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination

Wong, Bibiana K. Y. ; Sutton, V. Reid

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.423-431, Article ajmg.c.31658

Hoboken, USA: John Wiley & Sons, Inc

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Deste Autor:

  1. Sutton, V
  2. Dandalo-Girardi, R
  3. Jhangiani, S
  4. Kayserili, H
  5. Lima, A

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Genetics & Heredity
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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