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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Molecular Sequence Data remover
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1
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
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Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids

Ameur, Adam ; Enroth, Stefan ; Johansson, Åsa ; Zaboli, Ghazal ; Igl, Wilmar ; Johansson, Anna C.V. ; Rivas, Manuel A. ; Daly, Mark J. ; Schmitz, Gerd ; Hicks, Andrew A. ; Meitinger, Thomas ; Feuk, Lars ; van Duijn, Cornelia ; Oostra, Ben ; Pramstaller, Peter P. ; Rudan, Igor ; Wright, Alan F. ; Wilson, James F. ; Campbell, Harry ; Gyllensten, Ulf

American journal of human genetics, 2012-05, Vol.90 (5), p.809-820 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus ( BBS1)
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus ( BBS1)
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Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus ( BBS1)

Mykytyn, Kirk ; Nishimura, Darryl Y. ; Searby, Charles C. ; Beck, Gretel ; Bugge, Kevin ; Haines, Heidi L. ; Cornier, Alberto S. ; Cox, Gerald F. ; Fulton, Anne B. ; Carmi, Rivka ; Iannaccone, Alessandro ; Jacobson, Samuel G. ; Weleber, Richard G. ; Wright, Alan F. ; Riise, Ruth ; Raoul Hennekam, C.M. ; Lüleci, Güven ; Berker-Karauzum, Sibel ; Biesecker, Leslie G. ; Stone, Edwin M. ; Sheffield, Val C.

American journal of human genetics, 2003-02, Vol.72 (2), p.429-437 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15
Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15
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Remapping of the RP15 Locus for X-Linked Cone-Rod Degeneration to Xp11.4-p21.1, and Identification of a De Novo Insertion in the RPGR Exon ORF15

Mears, Alan J. ; Hiriyanna, Suja ; Vervoort, Raf ; Yashar, Beverly ; Gieser, Linn ; Fahrner, Stacey ; Daiger, Stephen P. ; Heckenlively, John R. ; Sieving, Paul A. ; Wright, Alan F. ; Swaroop, Anand

American journal of human genetics, 2000-10, Vol.67 (4), p.1000-1003 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)
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Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1)

SNAREY, A ; THOMAS, S ; FRISCHAUF, A.-M ; SCHNEIDER, M. C ; POUND, S. E ; BARTON, N ; WRIGHT, A. F ; SOMLO, S ; GERMINO, G. G ; HARRIS, P. C ; REEDERS, S. T

American journal of human genetics, 1994-08, Vol.55 (2), p.365-371 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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5
A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3
A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3
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A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3

FUJITA, R ; BINGHAM, E ; WRIGHT, A. F ; OTT, J ; SIEVING, P. A ; SWAROOP, A ; FORSYTHE, P ; MCHENRY, C ; AITA, V ; NAVIA, B. A ; DRY, K ; SEGAL, M ; DEVOTO, M ; BRUNS, G

American journal of human genetics, 1996-07, Vol.59 (1), p.152-158 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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6
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another : confirmation of genetic heterogeneity
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another : confirmation of genetic heterogeneity
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Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another : confirmation of genetic heterogeneity

LESTER, D. H ; INGLEHEARN, C. F ; BASHIR, R ; ACKFORD, H ; ESAKOWITZ, L ; JAY, M ; BIRD, A. C ; WRIGHT, A. F ; PAPIHA, S. S ; BHATTACHARYA, S. S

American journal of human genetics, 1990-09, Vol.47 (3), p.536-541 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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7
A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma
A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma
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A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma

Borrego, Salud ; Wright, Fred A. ; Fernández, Raquel M. ; Williams, Nita ; López-Alonso, Manuel ; Davuluri, Ramana ; Antiñolo, Guillermo ; Eng, Charis

American journal of human genetics, 2003-01, Vol.72 (1), p.88-100 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Fischer-Zirnsak, Björn ; Escande-Beillard, Nathalie ; Ganesh, Jaya ; Tan, Yu Xuan ; Al Bughaili, Mohammed ; Lin, Angela E. ; Sahai, Inderneel ; Bahena, Paulina ; Reichert, Sara L. ; Loh, Abigail ; Wright, Graham D. ; Liu, Jaron ; Rahikkala, Elisa ; Pivnick, Eniko K. ; Choudhri, Asim F. ; Krüger, Ulrike ; Zemojtel, Tomasz ; van Ravenswaaij-Arts, Conny ; Mostafavi, Roya ; Stolte-Dijkstra, Irene ; Symoens, Sofie ; Pajunen, Leila ; Al-Gazali, Lihadh ; Meierhofer, David ; Robinson, Peter N. ; Mundlos, Stefan ; Villarroel, Camilo E. ; Byers, Peter ; Masri, Amira ; Robertson, Stephen P. ; Schwarze, Ulrike ; Callewaert, Bert ; Reversade, Bruno ; Kornak, Uwe

American journal of human genetics, 2015-09, Vol.97 (3), p.483-492 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
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Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

Medland, Sarah E. ; Nyholt, Dale R. ; Painter, Jodie N. ; McEvoy, Brian P. ; McRae, Allan F. ; Zhu, Gu ; Gordon, Scott D. ; Ferreira, Manuel A.R. ; Wright, Margaret J. ; Henders, Anjali K. ; Campbell, Megan J. ; Duffy, David L. ; Hansell, Narelle K. ; Macgregor, Stuart ; Slutske, Wendy S. ; Heath, Andrew C. ; Montgomery, Grant W. ; Martin, Nicholas G.

American journal of human genetics, 2009-11, Vol.85 (5), p.750-755 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

Twigg, Stephen R.F. ; Forecki, Jennifer ; Goos, Jacqueline A.C. ; Richardson, Ivy C.A. ; Hoogeboom, A. Jeannette M. ; van den Ouweland, Ans M.W. ; Swagemakers, Sigrid M.A. ; Lequin, Maarten H. ; Van Antwerp, Daniel ; McGowan, Simon J. ; Westbury, Isabelle ; Miller, Kerry A. ; Wall, Steven A. ; van der Spek, Peter J. ; Mathijssen, Irene M.J. ; Pauws, Erwin ; Merzdorf, Christa S. ; Wilkie, Andrew O.M.

American journal of human genetics, 2015-09, Vol.97 (3), p.378-388 [Periódico revisado por pares]

United States: Elsevier Inc

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