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Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16 case report and review of literature
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16 case report and review of literature
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Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16 case report and review of literature

Ana C. Laus Wagner A. R Baratela; Lucimar A. F Laureano; Silvio A Santos; Jair Huber; Ester Silveira Ramos; Camila C Rebelo; Jeremy A Squire; Lúcia Regina Martelli

American Journal of Medical Genetics. Part A Hoboken v. 158 A, n. 4, p. 821-827, 2012

Hoboken 2012

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2288024 estantes deslizantes )(Acessar)

2
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy
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Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

Guilherme L. Yamamoto Wagner A. R Baratela; Tatiana F Almeida; Monize Lazar; Clara L Afonso; Maria K Oyamada; Lisa Suzuki; Luiz A. N Oliveira; Ester Silveira Ramos; Chong Ae Kim; Maria Rita Passos-Bueno; Débora Romeo Bertola

American Journal of Human Genetics Cambridge v. 94, n. 1, p. 113-119, 2014

Cambridge 2014

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2466445 Estantes Deslizantes )(Acessar)

3
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
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Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Yamamoto, Guilherme L. ; Baratela, Wagner A.R. ; Almeida, Tatiana F. ; Lazar, Monize ; Afonso, Clara L. ; Oyamada, Maria K. ; Suzuki, Lisa ; Oliveira, Luiz A.N. ; Ramos, Ester S. ; Kim, Chong A. ; Passos-Bueno, Maria Rita ; Bertola, Débora R.

American journal of human genetics, 2014-01, Vol.94 (1), p.113-119 [Periódico revisado por pares]

United States: Elsevier Inc

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4
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay
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A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay

Baratela, Wagner A.R. ; Bober, Michael B. ; Tiller, George E. ; Okenfuss, Ericka ; Ditro, Colleen ; Duker, Angela ; Krakow, Deborah ; Stabley, Deborah L. ; Sol-Church, Katia ; Mackenzie, William ; Lachman, Ralph ; Scott Jr, Charles I.

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.1815-1822 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
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Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature

Laus, Ana C. ; Baratela, Wagner A.R. ; Laureano, Lucimar A.F. ; Santos, Silvio A. ; Huber, Jair ; Ramos, Ester S. ; Rebelo, Camila C. ; Squire, Jeremy A. ; Martelli, Lucia

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.821-827 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects
Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects
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Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Romeo Bertola, Débora ; Honjo, Rachel S. ; Baratela, Wagner A.R.

Molecular syndromology, 2016-04, Vol.7 (1), p.12-18 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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7
Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases
Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases
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Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases

Baratela, Wagner A R ; Bober, Michael B ; Thacker, Mihir M ; Belthur, Mohan V ; Oto, Murat ; Rogers, Kenneth J ; Mackenzie, William G

Journal of pediatric orthopaedics, 2014-03, Vol.34 (2), p.223-228 [Periódico revisado por pares]

United States

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8
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
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GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

LaCroix, Amy J. ; Stabley, Deborah ; Sahraoui, Rebecca ; Adam, Margaret P. ; Mehaffey, Michele ; Kernan, Kelly ; Myers, Candace T. ; Fagerstrom, Carrie ; Anadiotis, George ; Akkari, Yassmine M. ; Robbins, Katherine M. ; Gripp, Karen W. ; Baratela, Wagner A.R. ; Bober, Michael B. ; Duker, Angela L. ; Doherty, Dan ; Dempsey, Jennifer C. ; Miller, Daniel G. ; Kircher, Martin ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Mefford, Heather C. ; Sol-Church, Katia

American journal of human genetics, 2019-01, Vol.104 (1), p.35-44 [Periódico revisado por pares]

United States: Elsevier Inc

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9
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
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International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

Savarirayan, Ravi ; Ireland, Penny ; Irving, Melita ; Thompson, Dominic ; Alves, Inês ; Baratela, Wagner A R ; Betts, James ; Bober, Michael B ; Boero, Silvio ; Briddell, Jenna ; Campbell, Jeffrey ; Campeau, Philippe M ; Carl-Innig, Patricia ; Cheung, Moira S ; Cobourne, Martyn ; Cormier-Daire, Valérie ; Deladure-Molla, Muriel ; Del Pino, Mariana ; Elphick, Heather ; Fano, Virginia ; Fauroux, Brigitte ; Gibbins, Jonathan ; Groves, Mari L ; Hagenäs, Lars ; Hannon, Therese ; Hoover-Fong, Julie ; Kaisermann, Morrys ; Leiva-Gea, Antonio ; Llerena, Juan ; Mackenzie, William ; Martin, Kenneth ; Mazzoleni, Fabio ; McDonnell, Sharon ; Meazzini, Maria Costanza ; Milerad, Josef ; Mohnike, Klaus ; Mortier, Geert R ; Offiah, Amaka ; Ozono, Keiichi ; Phillips, 3rd, John A ; Powell, Steven ; Prasad, Yosha ; Raggio, Cathleen ; Rosselli, Pablo ; Rossiter, Judith ; Selicorni, Angelo ; Sessa, Marco ; Theroux, Mary ; Thomas, Matthew ; Trespedi, Laura ; Tunkel, David ; Wallis, Colin ; Wright, Michael ; Yasui, Natsuo ; Fredwall, Svein Otto

Nature reviews. Endocrinology, 2022-03, Vol.18 (3), p.173-189 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz, Paweł ; Khan, Tahir N. ; Szafranski, Przemyslaw ; Slattery, Leah ; Streff, Haley ; Vetrini, Francesco ; Bernstein, Jonathan A. ; Brown, Chester W. ; Rosenfeld, Jill A. ; Rednam, Surya ; Scollon, Sarah ; Bergstrom, Katie L. ; Parsons, Donald W. ; Plon, Sharon E. ; Vieira, Marta W. ; Quaio, Caio R.D.C. ; Baratela, Wagner A.R. ; Acosta Guio, Johanna C. ; Armstrong, Ruth ; Mehta, Sarju G. ; Rump, Patrick ; Pfundt, Rolph ; Lewandowski, Raymond ; Fernandes, Erica M. ; Shinde, Deepali N. ; Tang, Sha ; Hoyer, Juliane ; Zweier, Christiane ; Reis, André ; Bacino, Carlos A. ; Xiao, Rui ; Breman, Amy M. ; Smith, Janice L. ; Katsanis, Nicholas ; Bostwick, Bret ; Popp, Bernt ; Davis, Erica E. ; Yang, Yaping

American journal of human genetics, 2017-10, Vol.101 (4), p.503-515 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Ramos, E
  2. Baratela, W
  3. Rebelo, C
  4. Huber, J
  5. Kim, C

Neste Assunto:

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

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

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