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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review
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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

Jezela‐Stanek, Aleksandra ; Kucharczyk, Marzena ; Pelc, Magdalena ; Gutkowska, Anna ; Krajewska‐Walasek, Małgorzata

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.172-178 [Periódico revisado por pares]

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

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2
1,2-Octanediol, a novel surfactant, for treating head louse infestation: identification of activity, formulation, and randomised, controlled trials
1,2-Octanediol, a novel surfactant, for treating head louse infestation: identification of activity, formulation, and randomised, controlled trials
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1,2-Octanediol, a novel surfactant, for treating head louse infestation: identification of activity, formulation, and randomised, controlled trials

Burgess, Ian F ; Lee, Peter N ; Kay, Katrina ; Jones, Ruth ; Brunton, Elizabeth R Sinnis, Photini

PloS one, 2012-04, Vol.7 (4), p.e35419 [Periódico revisado por pares]

United States: Public Library of Science

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3
1,25-Dihydroxyvitamin D3 enhances the enzymatic activity and expression of the messenger ribonucleic acid for aromatase cytochrome P450 synergistically with dexamethasone depending on the vitamin D receptor level in cultured human osteoblasts
1,25-Dihydroxyvitamin D3 enhances the enzymatic activity and expression of the messenger ribonucleic acid for aromatase cytochrome P450 synergistically with dexamethasone depending on the vitamin D receptor level in cultured human osteoblasts
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1,25-Dihydroxyvitamin D3 enhances the enzymatic activity and expression of the messenger ribonucleic acid for aromatase cytochrome P450 synergistically with dexamethasone depending on the vitamin D receptor level in cultured human osteoblasts

Tanaka, S ; Haji, M ; Takayanagi, R ; Tanaka, S ; Sugioka, Y ; Nawata, H

Endocrinology (Philadelphia), 1996-05, Vol.137 (5), p.1860-1869 [Periódico revisado por pares]

United States

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4
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis
1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis
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1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis

Nesterova, Galina ; Malicdan, May Christine ; Yasuda, Kaori ; Sakaki, Toshiyuki ; Vilboux, Thierry ; Ciccone, Carla ; Horst, Ronald ; Huang, Yan ; Golas, Gretchen ; Introne, Wendy ; Huizing, Marjan ; Adams, David ; Boerkoel, Cornelius F ; Collins, Michael T ; Gahl, William A

Clinical journal of the American Society of Nephrology, 2013-04, Vol.8 (4), p.649-657 [Periódico revisado por pares]

United States: American Society of Nephrology

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5
1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter
1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter
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1,25D3 prevents CD8(+)Tc2 skewing and asthma development through VDR binding changes to the Cyp11a1 promoter

Schedel, Michaela ; Jia, Yi ; Michel, Sven ; Takeda, Katsuyuki ; Domenico, Joanne ; Joetham, Anthony ; Ning, Fangkun ; Strand, Matthew ; Han, Junyan ; Wang, Meiqin ; Lucas, Joseph J ; Vogelberg, Christian ; Kabesch, Michael ; O'Connor, Brian P ; Gelfand, Erwin W

Nature communications, 2016-01, Vol.7 (1), p.10213-10213, Article 10213 [Periódico revisado por pares]

England: Nature Publishing Group

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6
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay
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1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay

Abdelmoity, Ahmed T ; Hall, John J ; Bittel, Douglas C ; Yu, Shihui

European journal of medical genetics, 2011-03, Vol.54 (2), p.198-203 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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7
1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child
1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child
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1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

Cobb, William ; Anderson, Arne ; Turner, Clesson ; Hoffman, Ruth D ; Schonberg, Steven ; Levin, Sondra W

European journal of medical genetics, 2010-11, Vol.53 (6), p.415-418 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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8
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis
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1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis

Knight, S W ; Vulliamy, T J ; Heiss, N S ; Matthijs, G ; Devriendt, K ; Connor, J M ; D'Urso, M ; Poustka, A ; Mason, P J ; Dokal, I

Journal of medical genetics, 1998-12, Vol.35 (12), p.993-996 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
1,5-AG suppresses pro-inflammatory polarization of macrophages and promotes the survival of B-ALL in vitro by upregulating CXCL14
1,5-AG suppresses pro-inflammatory polarization of macrophages and promotes the survival of B-ALL in vitro by upregulating CXCL14
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1,5-AG suppresses pro-inflammatory polarization of macrophages and promotes the survival of B-ALL in vitro by upregulating CXCL14

Wu, Min ; Zhang, Shule ; Chi, Cheng ; Zhu, Huasu ; Ma, Huixian ; Liu, Linghong ; Shi, Qing ; Li, Dong ; Ju, Xiuli

Molecular immunology, 2023-06, Vol.158, p.91-102 [Periódico revisado por pares]

England: Elsevier Ltd

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10
[1H] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case
[1H] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case
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[1H] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case

Tassini, Maria ; Zannolli, Raffaella ; Buoni, Sabrina ; Engelke, Udo ; Vivi, Antonio ; Valensin, Gianni ; Salomons, Gajja S. ; De Nicola, Anna ; Strambi, Mirella ; Monti, Lucia ; Morava, Eva ; Wevers, Ron A. ; Hayek, Joseph

Journal of child neurology, 2010-01, Vol.25 (1), p.98-101 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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Deste Autor:

  1. Mancini, M
  2. Jorge, A
  3. Bishop, D
  4. Clayton, P
  5. Miguel Filho, E

Neste Assunto:

  1. Child
  2. Child
  3. Humans
  4. Science & Technology
  5. Life Sciences & Biomedicine

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

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