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Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
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Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Alkuraya, Fowzan S. ; Cai, Xuyu ; Emery, Carina ; Mochida, Ganeshwaran H. ; Al-Dosari, Mohammed S. ; Felie, Jillian M. ; Hill, R. Sean ; Barry, Brenda J. ; Partlow, Jennifer N. ; Gascon, Generoso G. ; Kentab, Amal ; Jan, Mohammad ; Shaheen, Ranad ; Feng, Yuanyi ; Walsh, Christopher A.

American journal of human genetics, 2011-05, Vol.88 (5), p.536-547 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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2
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
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Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Alkuraya, Fowzan S. ; Cai, Xuyu ; Emery, Carina ; Mochida, Ganeshwaran H. ; Al-Dosari, Mohammed S. ; Felie, Jillian M. ; Hill, R. Sean ; Barry, Brenda J. ; Partlow, Jennifer N. ; Gascon, Generoso G. ; Kentab, Amal ; Jan, Mohammad ; Shaheen, Ranad ; Feng, Yuanyi ; Walsh, Christopher A.

American journal of human genetics, 2011-05, Vol.88 (5), p.677-677 [Periódico revisado por pares]

Elsevier Inc

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3
TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression
TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression
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TBX22 Missense Mutations Found in Patients with X-Linked Cleft Palate Affect DNA Binding, Sumoylation, and Transcriptional Repression

Andreou, Artemisia M. ; Pauws, Erwin ; Jones, Marius C. ; Singh, Manvendra K. ; Bussen, Markus ; Doudney, Kit ; Moore, Gudrun E. ; Kispert, Andreas ; Brosens, Jan J. ; Stanier, Philip

American journal of human genetics, 2007-10, Vol.81 (4), p.700-712 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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4
Homozygous Mutation in SPATA16Is Associated with Male Infertility in Human Globozoospermia
Homozygous Mutation in SPATA16Is Associated with Male Infertility in Human Globozoospermia
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Homozygous Mutation in SPATA16Is Associated with Male Infertility in Human Globozoospermia

Anika H D M Dam ; Koscinski, Isabelle ; Kremer, Jan A M ; Moutou, Céline

American journal of human genetics, 2007-10, Vol.81 (4), p.813 [Periódico revisado por pares]

Chicago: Cell Press

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5
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect
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Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Antonicka, Hana ; Østergaard, Elsebet ; Sasarman, Florin ; Weraarpachai, Woranontee ; Wibrand, Flemming ; Pedersen, Anne Marie B. ; Rodenburg, Richard J. ; van der Knaap, Marjo S. ; Smeitink, Jan A.M. ; Chrzanowska-Lightowlers, Zofia M. ; Shoubridge, Eric A.

American journal of human genetics, 2010-07, Vol.87 (1), p.115-122 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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6
RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies
RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies
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RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies

Antoniou, Antonis C. ; Sinilnikova, Olga M. ; Simard, Jacques ; Léoné, Mélanie ; Dumont, Martine ; Neuhausen, Susan L. ; Struewing, Jeffery P. ; Stoppa-Lyonnet, Dominique ; Barjhoux, Laure ; Hughes, David J. ; Coupier, Isabelle ; Belotti, Muriel ; Lasset, Christine ; Bonadona, Valérie ; Bignon, Yves-Jean ; Rebbeck, Timothy R. ; Wagner, Theresa ; Lynch, Henry T. ; Domchek, Susan M. ; Nathanson, Katherine L. ; Garber, Judy E. ; Weitzel, Jeffrey ; Narod, Steven A. ; Tomlinson, Gail ; Olopade, Olufunmilayo I. ; Godwin, Andrew ; Isaacs, Claudine ; Jakubowska, Anna ; Lubinski, Jan ; Gronwald, Jacek ; Górski, Bohdan ; Byrski, Tomasz ; Huzarski, Tomasz ; Peock, Susan ; Cook, Margaret ; Baynes, Caroline ; Murray, Alexandra ; Rogers, Mark ; Daly, Peter A. ; Dorkins, Huw ; Schmutzler, Rita K. ; Versmold, Beatrix ; Engel, Christoph ; Meindl, Alfons ; Arnold, Norbert ; Niederacher, Dieter ; Deissler, Helmut ; Spurdle, Amanda B. ; Chen, Xiaoqing ; Waddell, Nicola ; Cloonan, Nicole ; Kirchhoff, Tomas ; Offit, Kenneth ; Friedman, Eitan ; Kaufmann, Bella ; Laitman, Yael ; Galore, Gilli ; Rennert, Gad ; Lejbkowicz, Flavio ; Raskin, Leon ; Andrulis, Irene L. ; Ilyushik, Eduard ; Ozcelik, Hilmi ; Devilee, Peter ; Vreeswijk, Maaike P.G. ; Greene, Mark H. ; Prindiville, Sheila A. ; Osorio, Ana ; Benítez, Javier ; Zikan, Michal ; Szabo, Csilla I. ; Kilpivaara, Outi ; Nevanlinna, Heli ; Hamann, Ute ; Durocher, Francine ; Arason, Adalgeir ; Couch, Fergus J. ; Easton, Douglas F. ; Chenevix-Trench, Georgia

American journal of human genetics, 2007-12, Vol.81 (6), p.1186-1200 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
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Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci

ASSELBERGS, Folkert W ; YIRAN GUO ; BAUMERT, Jens ; BEITELSHEES, Amber L ; BHANGALE, Tushar R ; IDA CHEN, Yii-Der ; GAUNT, Tom R ; YAN GONG ; HOPEWELL, Jemma C ; JOHNSON, Toby ; KLEBER, Marcus E ; LANGAEE, Taimour Y ; VAN IPEREN, Erik P. A ; MINGYAO LI ; LI, Yun R ; KIANG LIU ; MCDONOUGH, Caitrin W ; MEIJS, Matthijs F. L ; MIDDELBERG, Rita P. S ; MUSUNURU, Kiran ; NELSON, Christopher P ; O'CONNELL, Jeffery R ; PADMANABHAN, Sandosh ; SIVAPALARATNAM, Suthesh ; PANKOW, James S ; PANKRATZ, Nathan ; RAFELT, Suzanne ; RAJAGOPALAN, Ramakrishnan ; ROMAINE, Simon P. R ; SCHORK, Nicholas J ; SHAFFER, Jonathan ; HAIQING SHEN ; SMITH, Erin N ; TISCHFIELD, Sam E ; TRAGANTE, Vinicius ; VAN DER MOST, Peter J ; VAN VLIET-OSTAPTCHOUK, Jana V ; VERWEIJ, Niek ; VOLCIK, Kelly A ; LI ZHANG ; BAILEY, Kent R ; BAILEY, Kristian M ; BAUER, Florianne ; BOER, Jolanda M. A ; BRAND, Peter S ; LANKTREE, Matthew B ; BURT, Amber ; BURTON, Paul R ; BUXBAUM, Sarah G ; WEI CHEN ; COOPER-DEHOFF, Rhonda M ; CUPPLES, L. Adrienne ; DEJONG, Jonas S ; DELLES, Christian ; DUGGAN, David ; FORNAGE, Myriam ; LANGE, Leslie A ; ALMOGUERA, Berta ; APPELMAN, Yolande E ; BARNARD, John

American journal of human genetics, 2012-11, Vol.91 (5), p.823-838 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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8
A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome
A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome
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A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome

Assink, Jacqueline J.M. ; Tijmes, Nel T. ; Brink, Jacoline B. ten ; Oostra, Roelof-Jan ; Riemslag, Frans C. ; de Jong, Paulus T.V.M. ; Bergen, Arthur A.B.

American journal of human genetics, 1997-10, Vol.61 (4), p.934-939 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Auer-Grumbach, Michaela ; Toegel, Stefan ; Schabhüttl, Maria ; Weinmann, Daniela ; Chiari, Catharina ; Bennett, David L.H. ; Beetz, Christian ; Klein, Dennis ; Andersen, Peter M. ; Böhme, Ilka ; Fink-Puches, Regina ; Gonzalez, Michael ; Harms, Matthew B. ; Motley, William ; Reilly, Mary M. ; Renner, Wilfried ; Rudnik-Schöneborn, Sabine ; Schlotter-Weigel, Beate ; Themistocleous, Andreas C. ; Weishaupt, Jochen H. ; Ludolph, Albert C. ; Wieland, Thomas ; Tao, Feifei ; Abreu, Lisa ; Windhager, Reinhard ; Zitzelsberger, Manuela ; Strom, Tim M. ; Walther, Thomas ; Scherer, Steven S. ; Züchner, Stephan ; Martini, Rudolf ; Senderek, Jan

American journal of human genetics, 2016-09, Vol.99 (3), p.607-623 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Austin-Tse, Christina ; Halbritter, Jan ; Zariwala, Maimoona A. ; Gilberti, Renée M. ; Gee, Heon Yung ; Hellman, Nathan ; Pathak, Narendra ; Liu, Yan ; Panizzi, Jennifer R. ; Patel-King, Ramila S. ; Tritschler, Douglas ; Bower, Raqual ; O’Toole, Eileen ; Porath, Jonathan D. ; Hurd, Toby W. ; Chaki, Moumita ; Diaz, Katrina A. ; Kohl, Stefan ; Lovric, Svjetlana ; Hwang, Daw-Yang ; Braun, Daniela A. ; Schueler, Markus ; Airik, Rannar ; Otto, Edgar A. ; Leigh, Margaret W. ; Noone, Peadar G. ; Carson, Johnny L. ; Davis, Stephanie D. ; Pittman, Jessica E. ; Ferkol, Thomas W. ; Atkinson, Jeffry J. ; Olivier, Kenneth N. ; Sagel, Scott D. ; Dell, Sharon D. ; Rosenfeld, Margaret ; Milla, Carlos E. ; Loges, Niki T. ; Omran, Heymut ; Porter, Mary E. ; King, Stephen M. ; Knowles, Michael R. ; Drummond, Iain A. ; Hildebrandt, Friedhelm

American journal of human genetics, 2013-10, Vol.93 (4), p.672-686 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Senderek, J
  2. Esquivel, E
  3. Schöneborn, S
  4. Sweeney, W
  5. Hou, X

Neste Assunto:

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

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

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