skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Genetic Disorders remover assunto: Pigmentation remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS‐derived melanocytes
Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS‐derived melanocytes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Modeling of pigmentation disorders associated with MITF mutation in Waardenburg syndrome revealed an impaired melanogenesis pathway in iPS‐derived melanocytes

Wen, Jie ; Song, Jian ; Chen, Jiale ; Feng, Zhili ; Jing, Qiancheng ; Gong, Wei ; Kang, Xiaoming ; Mei, Lingyun ; He, Chufeng ; Ma, Lu ; Feng, Yong

Pigment cell and melanoma research, 2024-01, Vol.37 (1), p.21-35 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
2
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria

Liu, Hong ; Li, Yi ; Hung, Ken Kwok Hon ; Wang, Na ; Wang, Chuan ; Chen, Xuechao ; Sheng, Donglai ; Fu, Xi'an ; See, Kelvin ; Foo, Jia Nee ; Low, Huiqi ; Liany, Herty ; Irwan, Ishak Darryl ; Liu, Jian ; Yang, Baoqi ; Chen, Mingfei ; Yu, Yongxiang ; Yu, Gongqi ; Niu, Guiye ; You, Jiabao ; Zhou, Yan ; Ma, Shanshan ; Wang, Ting ; Yan, Xiaoxiao ; Goh, Boon Kee ; Common, John E A ; Lane, Birgitte E ; Sun, Yonghu ; Zhou, Guizhi ; Lu, Xianmei ; Wang, Zhenhua ; Tian, Hongqing ; Cao, Yuanhua ; Chen, Shumin ; Liu, Qiji ; Liu, Jianjun ; Zhang, Furen Toft, Mathias

PloS one, 2014-02, Vol.9 (2), p.e87250 [Periódico revisado por pares]

United States: Public Library of Science

Texto completo disponível

Citações Citado por
3
Arsenic Exposure, Dermatological Lesions, Hypertension, and Chromosomal Abnormalities among People in a Rural Community of Northwest Iran
Arsenic Exposure, Dermatological Lesions, Hypertension, and Chromosomal Abnormalities among People in a Rural Community of Northwest Iran
Material Type:
Artigo 		Adicionar ao Meu Espaço

Arsenic Exposure, Dermatological Lesions, Hypertension, and Chromosomal Abnormalities among People in a Rural Community of Northwest Iran

Dastgiri, Saeed ; Mosaferi, Mohammad ; Fizi, Mohammad A.H ; Olfati, Nahid ; Zolali, Shahin ; Pouladi, Nasser ; Azarfam, Parvin

Journal of health, population and nutrition, 2010-02, Vol.28 (1), p.14-22 [Periódico revisado por pares]

Bangladesh: ICDDR,B: Centre for Health and Population Research

Texto completo disponível

Citações Citado por
4
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

Song, Yinsen ; Dong, Zhengping ; Luo, Shuying ; Yang, Junmei ; Lu, Yuebing ; Gao, Bo ; Fan, Tianli

BMC medical genetics, 2020-01, Vol.21 (1), p.4-4, Article 4 [Periódico revisado por pares]

England: BioMed Central Ltd

Texto completo disponível

Citações Citado por
5
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1

Gao, Xuhui ; Liu, Tiecheng ; Cheng, Xuan ; Dai, Aiai ; Liu, Wei ; Li, Runpu ; Zhang, Maonian

Molecular medicine reports, 2020-01, Vol.21 (1), p.240-248

Greece: Spandidos Publications

Texto completo disponível

Citações Citado por
6
Leucism in Tityus pusillus (Scorpiones: Buthidae): Report of a rare event in scorpions
Leucism in Tityus pusillus (Scorpiones: Buthidae): Report of a rare event in scorpions
Material Type:
Artigo 		Adicionar ao Meu Espaço

Leucism in Tityus pusillus (Scorpiones: Buthidae): Report of a rare event in scorpions

Lira, A.F.A. ; Pordeus, L.M. ; Albuquerque, C.M.R.

The Journal of arachnology, 2016-08, Vol.44 (2), p.245-246 [Periódico revisado por pares]

American Arachnological Society

Texto completo disponível

Citações Citado por
7
molecular basis and clinical aspects of Peutz-Jeghers syndrome
molecular basis and clinical aspects of Peutz-Jeghers syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

molecular basis and clinical aspects of Peutz-Jeghers syndrome

Hemminki, A

Cellular and molecular life sciences : CMLS, 1999-05, Vol.55 (5), p.735-750 [Periódico revisado por pares]

Switzerland: Springer-Verlag

Texto completo disponível

Citações Citado por
8
A new inherited ocular anomaly in pigmented White Leghorn chickens
A new inherited ocular anomaly in pigmented White Leghorn chickens
Material Type:
Artigo 		Adicionar ao Meu Espaço

A new inherited ocular anomaly in pigmented White Leghorn chickens

Salter, D.W. (Michigan State University, East Lansing.) ; Payne, W.S ; Ramsey, D.T ; Blair, M ; Render, J.A

Journal of veterinary diagnostic investigation, 1997-10, Vol.9 (4), p.407-409 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

Texto completo disponível

Citações Citado por
9
Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities
Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities
Material Type:
Artigo 		Adicionar ao Meu Espaço

Rab GTPases as regulators of endocytosis, targets of disease and therapeutic opportunities

Agola, JO ; Jim, PA ; Ward, HH ; BasuRay, S ; Wandinger-Ness, A

Clinical genetics, 2011-10, Vol.80 (4), p.305-318 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
10
mTORC1 activity negatively regulates human hair follicle growth and pigmentation
mTORC1 activity negatively regulates human hair follicle growth and pigmentation
Material Type:
Artigo 		Adicionar ao Meu Espaço

mTORC1 activity negatively regulates human hair follicle growth and pigmentation

Suzuki, Takahiro ; Chéret, Jérémy ; Scala, Fernanda Dinelli ; Akhundlu, Aysun ; Gherardini, Jennifer ; Demetrius, Dana‐Lee ; O'Sullivan, James D B ; Kuka Epstein, Gorana ; Bauman, Alan J ; Demetriades, Constantinos ; Paus, Ralf

EMBO reports, 2023-07, Vol.24 (7), p.e56574-n/a [Periódico revisado por pares]

England: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (72)

Refinar Meus Resultados

Assunto 

  1. Science & Technology  (66)
  2. Life Sciences & Biomedicine  (57)
  3. Mutation  (41)
  4. Humans  (37)
  5. Genes  (28)
  6. Animals  (21)
  7. Female  (20)
  8. Skin  (20)
  9. Patients  (19)
  10. Male  (19)
  11. Phenotypes  (18)
  12. Phenotype  (17)
  13. Genetic Aspects  (17)
  14. Genetics & Heredity  (15)
  15. Genetics  (14)
  16. Hair  (14)
  17. Case Report  (12)
  18. Genomes  (12)
  19. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de1999  (4)
  2. 1999Até2007  (5)
  3. 2008Até2012  (8)
  4. 2013Até2017  (10)
  5. Após 2017  (49)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.