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1
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw-Smith Alan M Pittman; Lionel Willatt; Howard Martin; Lisa Rickman; Susan Gribble; Rebecca Curley; Sally Cumming; Carolyn Dunn; Dimitrios Kalaitzopoulos; Keith R Porter; Elena Prigmore; Ana Cristina Victorino Krepischi; Monica Castro Varela; Celia Priszkulnik Koiffmann; Andrew J Lees; Carla Rosenberg; Helen V Firth; Rohan de Silva; Nigel P Carter

Nature Genetics v. 38, n. 9, p. 1032-1037, sept. 2006

New York 2006

Item não circula. Consulte sua biblioteca.(Acessar)

2
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw-Smith Alan M Pittman; Lionel Willatt; Howard Martin; Lisa Rickman; Susan Gribble; Rebecca Curley; Sally Cumming; Carolyn Dunn; Dimitrios Kalaitzopoulos; Keith R Porter; Elena Prigmore; Ana Cristina Victorino Krepischi-Santos; Monica Castro Varela; Célia Priszkulnik Koiffmann; Andrew J Lees; Carla Rosenberg; Helen V Firth; Rohan de Silva; Nigel P Carter

Nature Genetics v. 38, n. 9, p. 1032-1037, sept. 2006

New York 2006

Item não circula. Consulte sua biblioteca.(Acessar)

3
Integrated analysis of population genomics, transcriptomics and virulence provides novel insights into Streptococcus pyogenes pathogenesis
Integrated analysis of population genomics, transcriptomics and virulence provides novel insights into Streptococcus pyogenes pathogenesis
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Integrated analysis of population genomics, transcriptomics and virulence provides novel insights into Streptococcus pyogenes pathogenesis

Kachroo, Priyanka ; Eraso, Jesus M ; Beres, Stephen B ; Olsen, Randall J ; Zhu, Luchang ; Nasser, Waleed ; Bernard, Paul E ; Cantu, Concepcion C ; Saavedra, Matthew Ojeda ; Arredondo, María José ; Strope, Benjamin ; Do, Hackwon ; Kumaraswami, Muthiah ; Vuopio, Jaana ; Gröndahl-Yli-Hannuksela, Kirsi ; Kristinsson, Karl G ; Gottfredsson, Magnus ; Pesonen, Maiju ; Pensar, Johan ; Davenport, Emily R ; Clark, Andrew G ; Corander, Jukka ; Caugant, Dominique A ; Gaini, Shahin ; Magnussen, Marita Debess ; Kubiak, Samantha L ; Nguyen, Hoang A T ; Long, S Wesley ; Porter, Adeline R ; DeLeo, Frank R ; Musser, James M

Nature genetics, 2019-03, Vol.51 (3), p.548-559 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Genomic analyses implicate noncoding de novo variants in congenital heart disease
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Genomic analyses implicate noncoding de novo variants in congenital heart disease

Richter, Felix ; Morton, Sarah U ; Kim, Seong Won ; Kitaygorodsky, Alexander ; Wasson, Lauren K ; Chen, Kathleen M ; Zhou, Jian ; Qi, Hongjian ; Patel, Nihir ; DePalma, Steven R ; Parfenov, Michael ; Homsy, Jason ; Gorham, Joshua M ; Manheimer, Kathryn B ; Velinder, Matthew ; Farrell, Andrew ; Marth, Gabor ; Schadt, Eric E ; Kaltman, Jonathan R ; Newburger, Jane W ; Giardini, Alessandro ; Goldmuntz, Elizabeth ; Brueckner, Martina ; Kim, Richard ; Porter, Jr, George A ; Bernstein, Daniel ; Chung, Wendy K ; Srivastava, Deepak ; Tristani-Firouzi, Martin ; Troyanskaya, Olga G ; Dickel, Diane E ; Shen, Yufeng ; Seidman, Jonathan G ; Seidman, Christine E ; Gelb, Bruce D

Nature genetics, 2020-08, Vol.52 (8), p.769-777 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro
Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro
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Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro

Garcia-Alonso, Luz ; Handfield, Louis-François ; Roberts, Kenny ; Nikolakopoulou, Konstantina ; Fernando, Ridma C ; Gardner, Lucy ; Woodhams, Benjamin ; Arutyunyan, Anna ; Polanski, Krzysztof ; Hoo, Regina ; Sancho-Serra, Carmen ; Li, Tong ; Kwakwa, Kwasi ; Tuck, Elizabeth ; Lorenzi, Valentina ; Massalha, Hassan ; Prete, Martin ; Kleshchevnikov, Vitalii ; Tarkowska, Aleksandra ; Porter, Tarryn ; Mazzeo, Cecilia Icoresi ; van Dongen, Stijn ; Dabrowska, Monika ; Vaskivskyi, Vasyl ; Mahbubani, Krishnaa T ; Park, Jong-Eun ; Jimenez-Linan, Mercedes ; Campos, Lia ; Kiselev, Vladimir Yu ; Lindskog, Cecilia ; Ayuk, Paul ; Prigmore, Elena ; Stratton, Michael R ; Saeb-Parsy, Kourosh ; Moffett, Ashley ; Moore, Luiza ; Bayraktar, Omer A ; Teichmann, Sarah A ; Turco, Margherita Y ; Vento-Tormo, Roser

Nature genetics, 2021-12, Vol.53 (12), p.1698-1711 [Periódico revisado por pares]

United States: Nature Publishing Group US

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6
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

Topaloglu, A Kemal ; O'Rahilly, Stephen ; Reimann, Frank ; Guclu, Metin ; Yalin, Ayse Serap ; Kotan, L Damla ; Porter, Keith M ; Serin, Ayse ; Mungan, Neslihan O ; Cook, Joshua R ; Ozbek, Mehmet N ; Imamoglu, Sazi ; Akalin, N Sema ; Yuksel, Bilgin ; Semple, Robert K

Nature genetics, 2009-03, Vol.41 (3), p.354-358 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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7
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Jin, Sheng Chih ; Homsy, Jason ; Zaidi, Samir ; Lu, Qiongshi ; Morton, Sarah ; DePalma, Steven R ; Zeng, Xue ; Qi, Hongjian ; Chang, Weni ; Sierant, Michael C ; Hung, Wei-Chien ; Haider, Shozeb ; Zhang, Junhui ; Knight, James ; Bjornson, Robert D ; Castaldi, Christopher ; Tikhonoa, Irina R ; Bilguvar, Kaya ; Mane, Shrikant M ; Sanders, Stephan J ; Mital, Seema ; Russell, Mark W ; Gaynor, J William ; Deanfield, John ; Giardini, Alessandro ; Porter, Jr, George A ; Srivastava, Deepak ; Lo, Cecelia W ; Shen, Yufeng ; Watkins, W Scott ; Yandell, Mark ; Yost, H Joseph ; Tristani-Firouzi, Martin ; Newburger, Jane W ; Roberts, Amy E ; Kim, Richard ; Zhao, Hongyu ; Kaltman, Jonathan R ; Goldmuntz, Elizabeth ; Chung, Wendy K ; Seidman, Jonathan G ; Gelb, Bruce D ; Seidman, Christine E ; Lifton, Richard P ; Brueckner, Martina

Nature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment
Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment
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Single-nucleus and spatial transcriptome profiling of pancreatic cancer identifies multicellular dynamics associated with neoadjuvant treatment

Hwang, William L ; Jagadeesh, Karthik A ; Guo, Jimmy A ; Hoffman, Hannah I ; Yadollahpour, Payman ; Reeves, Jason W ; Mohan, Rahul ; Drokhlyansky, Eugene ; Van Wittenberghe, Nicholas ; Ashenberg, Orr ; Farhi, Samouil L ; Schapiro, Denis ; Divakar, Prajan ; Miller, Eric ; Zollinger, Daniel R ; Eng, George ; Schenkel, Jason M ; Su, Jennifer ; Shiau, Carina ; Yu, Patrick ; Freed-Pastor, William A ; Abbondanza, Domenic ; Mehta, Arnav ; Gould, Joshua ; Lambden, Conner ; Porter, Caroline B M ; Tsankov, Alexander ; Dionne, Danielle ; Waldman, Julia ; Cuoco, Michael S ; Nguyen, Lan ; Delorey, Toni ; Phillips, Devan ; Barth, Jaimie L ; Kem, Marina ; Rodrigues, Clifton ; Ciprani, Debora ; Roldan, Jorge ; Zelga, Piotr ; Jorgji, Vjola ; Chen, Jonathan H ; Ely, Zackery ; Zhao, Daniel ; Fuhrman, Kit ; Fropf, Robin ; Beechem, Joseph M ; Loeffler, Jay S ; Ryan, David P ; Weekes, Colin D ; Ferrone, Cristina R ; Qadan, Motaz ; Aryee, Martin J ; Jain, Rakesh K ; Neuberg, Donna S ; Wo, Jennifer Y ; Hong, Theodore S ; Xavier, Ramnik ; Aguirre, Andrew J ; Rozenblatt-Rosen, Orit ; Mino-Kenudson, Mari ; Castillo, Carlos Fernandez-Del ; Liss, Andrew S ; Ting, David T ; Jacks, Tyler ; Regev, Aviv

Nature genetics, 2022-08, Vol.54 (8), p.1178-1191 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Beachy, Philip A ; Cooper, Michael K ; Wassif, Christopher A ; Krakowiak, Patrycja A ; Taipale, Jussi ; Gong, Ruoyu ; Kelley, Richard I ; Porter, Forbes D

Nature genetics, 2003-04, Vol.33 (4), p.508-513 [Periódico revisado por pares]

London: Nature Publishing Group

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10
A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus
A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus
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A variant upstream of IFNL3 (IL28B) creating a new interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus

Prokunina-Olsson, Ludmila ; Muchmore, Brian ; Tang, Wei ; Pfeiffer, Ruth M ; Park, Heiyoung ; Dickensheets, Harold ; Hergott, Dianna ; Porter-Gill, Patricia ; Mumy, Adam ; Kohaar, Indu ; Chen, Sabrina ; Brand, Nathan ; Tarway, McAnthony ; Liu, Luyang ; Sheikh, Faruk ; Astemborski, Jacquie ; Bonkovsky, Herbert L ; Edlin, Brian R ; Howell, Charles D ; Morgan, Timothy R ; Thomas, David L ; Rehermann, Barbara ; Donnelly, Raymond P ; O'Brien, Thomas R

Nature genetics, 2013-02, Vol.45 (2), p.164-171 [Periódico revisado por pares]

United States: Nature Publishing Group

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Deste Autor:

  1. Cumming, S
  2. Gribble, S
  3. Kalaitzopoulos, D
  4. Prigmore, E
  5. Rickman, L

Neste Assunto:

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

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

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