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Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia
Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia
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Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia

Metspalu, Mait ; Romero, Irene Gallego ; Yunusbayev, Bayazit ; Chaubey, Gyaneshwer ; Mallick, Chandana Basu ; Hudjashov, Georgi ; Nelis, Mari ; Mägi, Reedik ; Metspalu, Ene ; Remm, Maido ; Pitchappan, Ramasamy ; Singh, Lalji ; Thangaraj, Kumarasamy ; Villems, Richard ; Kivisild, Toomas

American journal of human genetics, 2011-12, Vol.89 (6), p.731-744 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Scheper, Gert C ; Bugiani, Marianna ; Florentz, Catherine ; Van Coster, Rudy ; Smet, Joél ; Schiffmann, Raphael ; van Berkel, Carola G M ; Muravina, Tatjana I ; van der Klok, Thom ; Smeitink, Jan A M ; Pronk, Jan C ; van Andel, Rob J ; Uziel, Graziella ; Krägeloh-Mann, Ingeborg ; Sissler, Marie ; Serkov, Sergey V ; van der Knaap, Marjo S

Nature genetics, 2007-04, Vol.39 (4), p.534-539 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
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Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians

Dulik, Matthew C. ; Zhadanov, Sergey I. ; Osipova, Ludmila P. ; Askapuli, Ayken ; Gau, Lydia ; Gokcumen, Omer ; Rubinstein, Samara ; Schurr, Theodore G.

American journal of human genetics, 2012-02, Vol.90 (2), p.229-246 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Hildebrandt, Friedhelm ; Hinkes, Bernward ; Wiggins, Roger C ; Gbadegesin, Rasheed ; Vlangos, Christopher N ; Seelow, Dominik ; Nürnberg, Gudrun ; Garg, Puneet ; Verma, Rakesh ; Chaib, Hassan ; Hoskins, Bethan E ; Ashraf, Shazia ; Becker, Christian ; Hennies, Hans Christian ; Goyal, Meera ; Wharram, Bryan L ; Schachter, Asher D ; Mudumana, Sudha ; Drummond, Iain ; Kerjaschki, Dontscho ; Waldherr, Rüdiger ; Dietrich, Alexander ; Ozaltin, Fatih ; Bakkaloglu, Aysin ; Cleper, Roxana ; Basel-Vanagaite, Lina ; Pohl, Martin ; Griebel, Martin ; Tsygin, Alexey N ; Soylu, Alper ; Müller, Dominik ; Sorli, Caroline S ; Bunney, Tom D ; Katan, Matilda ; Liu, Jinhong ; Attanasio, Massimo ; O'Toole, John F ; Hasselbacher, Katrin ; Mucha, Bettina ; Otto, Edgar A ; Airik, Rannar ; Kispert, Andreas ; Kelley, Grant G ; Smrcka, Alan V ; Gudermann, Thomas ; Holzman, Lawrence B ; Nürnberg, Peter

Nature genetics, 2006-12, Vol.38 (12), p.1397-1405 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists
Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists
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Polarity and Temporality of High-Resolution Y-Chromosome Distributions in India Identify Both Indigenous and Exogenous Expansions and Reveal Minor Genetic Influence of Central Asian Pastoralists

Sengupta, Sanghamitra ; Zhivotovsky, Lev A. ; King, Roy ; Mehdi, S.Q. ; Edmonds, Christopher A. ; Chow, Cheryl-Emiliane T. ; Lin, Alice A. ; Mitra, Mitashree ; Sil, Samir K. ; Ramesh, A. ; Usha Rani, M.V. ; Thakur, Chitra M. ; Cavalli-Sforza, L. Luca ; Majumder, Partha P. ; Underhill, Peter A.

American journal of human genetics, 2006-02, Vol.78 (2), p.202-221 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time
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The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time

Zhivotovsky, Lev A. ; Underhill, Peter A. ; Cinnioğlu, Cengiz ; Kayser, Manfred ; Morar, Bharti ; Kivisild, Toomas ; Scozzari, Rosaria ; Cruciani, Fulvio ; Destro-Bisol, Giovanni ; Spedini, Gabriella ; Chambers, Geoffrey K. ; Herrera, Rene J. ; Yong, Kiau Kiun ; Gresham, David ; Tournev, Ivailo ; Feldman, Marcus W. ; Kalaydjieva, Luba

American journal of human genetics, 2004-01, Vol.74 (1), p.50-61 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Evgrafov, Oleg V ; Mersiyanova, Irena ; Irobi, Joy ; Van Den Bosch, Ludo ; Dierick, Ines ; Leung, Conrad L ; Schagina, Olga ; Verpoorten, Nathalie ; Van Impe, Katrien ; Fedotov, Valeriy ; Dadali, Elena ; Auer-Grumbach, Michaela ; Windpassinger, Christian ; Wagner, Klaus ; Mitrovic, Zoran ; Hilton-Jones, David ; Talbot, Kevin ; Martin, Jean-Jacques ; Vasserman, Natalia ; Tverskaya, Svetlana ; Polyakov, Alexander ; Liem, Ronald K H ; Gettemans, Jan ; Robberecht, Wim ; De Jonghe, Peter ; Timmerman, Vincent

Nature genetics, 2004-06, Vol.36 (6), p.602-606 [Periódico revisado por pares]

London: Nature Publishing Group

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8
Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area
Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area
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Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area

Semino, Ornella ; Magri, Chiara ; Benuzzi, Giorgia ; Lin, Alice A. ; Al-Zahery, Nadia ; Battaglia, Vincenza ; Maccioni, Liliana ; Triantaphyllidis, Costas ; Shen, Peidong ; Oefner, Peter J. ; Zhivotovsky, Lev A. ; King, Roy ; Torroni, Antonio ; Cavalli-Sforza, L. Luca ; Underhill, Peter A. ; Santachiara-Benerecetti, A. Silvana

American journal of human genetics, 2004-05, Vol.74 (5), p.1023-1034 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide
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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

Wilcken, B ; Bamforth, F ; Li, Z ; Zhu, H ; Ritvanen, A ; Redlund, M ; Stoll, C ; Alembik, Y ; Dott, B ; Czeizel, A E ; Gelman-Kohan, Z ; Scarano, G ; Bianca, S ; Ettore, G ; Tenconi, R ; Bellato, S ; Scala, I ; Mutchinick, O M ; López, M A ; de Walle, H ; Hofstra, R ; Joutchenko, L ; Kavteladze, L ; Bermejo, E ; Martínez-Frías, M L ; Gallagher, M ; Erickson, J D ; Vollset, S E ; Mastroiacovo, P ; Andria, G ; Botto, L D

Journal of medical genetics, 2003-08, Vol.40 (8), p.619-625 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly
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Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Maksimova, Nadezda ; Hara, Kenju ; Nikolaeva, Irina ; Chun-Feng, Tan ; Usui, Tomoaki ; Takagi, Mineo ; Nishihira, Yasushi ; Miyashita, Akinori ; Fujiwara, Hiroshi ; Oyama, Tokuhide ; Nogovicina, Anna ; Sukhomyasova, Aitalina ; Potapova, Svetlana ; Kuwano, Ryozo ; Takahashi, Hitoshi ; Nishizawa, Masatoyo ; Onodera, Osamu

Journal of medical genetics, 2010-08, Vol.47 (8), p.538-548 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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