skip to main content
Language:
Results 1 2 3 4 5 next page
Refined by: Journal Title: American Journal Of Human Genetics remove
Result Number Material Type Add to My Shelf Action Record Details and Options
1
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Material Type:
Article 		Add to e-Shelf

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

Luiz F. Onuchic Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner Zerres. Klaus; Lisa M. Guay Woodford; Stefan Somlo; Gregory G Germino

American Journal of Human Genetics Baltimore v. 70, p. 1305-1317, 2002

Baltimore 2002

Available at FM - Fac. Medicina    (BCSEP 2002 239 )(GetIt)

2
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats
Material Type:
Article 		Add to e-Shelf

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

Luiz F. Onuchic Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner Zerres. Klaus; Lisa M. Guay Woodford; Stefan Somlo; Gregory G Germino

American Journal of Human Genetics Baltimore v. 70, p. 1305-1317, 2002

Baltimore 2002

Available at FM - Fac. Medicina    (BCSEP 2002 239 )(GetIt)

3
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Material Type:
Article 		Add to e-Shelf

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner Andreas Roos; Christopher J Munn; Ranjith Viswanathan; Tamieka Whyte; Dan Cox; Benedikt Schoser; Caroline Sewry; Helen Roper; Rahul Phadke; Chiara Marini Bettolo; Rita Barresi; Richard Charlton; Carsten G Bönnemann; Osório Abath Neto; Umbertina C Reed; Edmar Zanoteli; Cristiane Araújo Martins Moreno; Birgit Ertl-Wagner; Rolf Stucka; Christian De Goede; Tamiris Borges da Silva; Denisa Hathazi; Margherita Dell’Aica; René P Zahedi; Simone Thiele; Juliane Müller; Helen Kingston; Susanna Müller; Elizabeth Curtis; Maggie C Walter; Tim M Strom; Volker Straub; Kate Bushby; Francesco Muntoni; Laura E Swan; Hanns Lochmüller; Jan Senderek

American Journal of Human Genetics Chicago v. 100, n. 3, p. 523-536, 2017

Chicago 2017

Available at FM - Fac. Medicina    (BCSEP 091 2017 )(GetIt)

4
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Material Type:
Article 		Add to e-Shelf

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna ; Thouta, Samrat ; Mancini, Grazia M.S. ; Naidu, Sakkubai ; van Slegtenhorst, Marjon ; McWalter, Kirsty ; Person, Richard ; Mwenifumbo, Jill ; Salvarinova, Ramona ; Adam, Shelin ; du Souich, Christèle ; Elliott, Alison M. ; Lehman, Anna ; Mwenifumbo, Jill ; Nelson, Tanya N. ; van Karnebeek, Clara ; Friedman, Jan M. ; Boelman, Cyrus ; Bolbocean, Corneliu ; Buerki, Sarah E. ; Candido, Tara ; Eydoux, Patrice ; Evans, Daniel M. ; Gibson, William ; Horvath, Gabriella ; Huh, Linda ; Sinclair, Graham ; Tarling, Tamsin ; Toyota, Eric B. ; Townsend, Katelin N. ; Van Allen, Margot I. ; Vercauteren, Suzanne ; Guella, Ilaria ; McKenzie, Marna B. ; Datta, Anita ; Connolly, Mary B. ; Kalkhoran, Somayeh Mojard ; Poburko, Damon ; Friedman, Jan M. ; Farrer, Matthew J. ; Demos, Michelle ; Desai, Sonal ; Claydon, Thomas

American journal of human genetics, 2017-07, Vol.101 (1), p.65-74 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available

Citations Cited by
5
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
Material Type:
Article 		Add to e-Shelf

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, Karuna R.M. ; Sistermans, Erik A. ; Macville, Merryn V.E. ; Stevens, Servi J.C. ; Bax, Caroline J. ; Bekker, Mireille N. ; Bilardo, Caterina M. ; Boon, Elles M.J. ; Boter, Marjan ; Diderich, Karin E.M. ; de Die-Smulders, Christine E.M. ; Duin, Leonie K. ; Faas, Brigitte H.W. ; Feenstra, Ilse ; Haak, Monique C. ; Hoffer, Mariëtte J.V. ; den Hollander, Nicolette S. ; Hollink, Iris H.I.M. ; Jehee, Fernanda S. ; Knapen, Maarten F.C.M. ; Kooper, Angelique J.A. ; van Langen, Irene M. ; Lichtenbelt, Klaske D. ; Linskens, Ingeborg H. ; van Maarle, Merel C. ; Oepkes, Dick ; Pieters, Mijntje J. ; Schuring-Blom, G. Heleen ; Sikkel, Esther ; Sikkema-Raddatz, Birgit ; Smeets, Dominique F.C.M. ; Srebniak, Malgorzata I. ; Suijkerbuijk, Ron F. ; Tan-Sindhunata, Gita M. ; van der Ven, A. Jeanine E.M. ; van Zelderen-Bhola, Shama L. ; Henneman, Lidewij ; Galjaard, Robert-Jan H. ; Van Opstal, Diane ; Weiss, Marjan M.

American journal of human genetics, 2019-12, Vol.105 (6), p.1091-1101 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available

Citations Cited by
6
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Material Type:
Article 		Add to e-Shelf

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Manzini, M. Chiara ; Tambunan, Dimira E. ; Hill, R. Sean ; Yu, Tim W. ; Maynard, Thomas M. ; Heinzen, Erin L. ; Shianna, Kevin V. ; Stevens, Christine R. ; Partlow, Jennifer N. ; Barry, Brenda J. ; Rodriguez, Jacqueline ; Gupta, Vandana A. ; Al-Qudah, Abdel-Karim ; Eyaid, Wafaa M. ; Friedman, Jan M. ; Salih, Mustafa A. ; Clark, Robin ; Moroni, Isabella ; Mora, Marina ; Beggs, Alan H. ; Gabriel, Stacey B. ; Walsh, Christopher A.

American journal of human genetics, 2012-09, Vol.91 (3), p.541-547 [Peer Reviewed Journal]

Cambridge, MA: Elsevier Inc

Full text available

Citations Cited by
7
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Material Type:
Article 		Add to e-Shelf

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Bredrup, Cecilie ; Saunier, Sophie ; Oud, Machteld M. ; Fiskerstrand, Torunn ; Hoischen, Alexander ; Brackman, Damien ; Leh, Sabine M. ; Midtbø, Marit ; Filhol, Emilie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Gilissen, Christian ; Haugen, Olav H. ; Sanders, Jan-Stephan F. ; Stolte-Dijkstra, Irene ; Mans, Dorus A. ; Steenbergen, Eric J. ; Hamel, Ben C.J. ; Matignon, Marie ; Pfundt, Rolph ; Jeanpierre, Cécile ; Boman, Helge ; Rødahl, Eyvind ; Veltman, Joris A. ; Knappskog, Per M. ; Knoers, Nine V.A.M. ; Roepman, Ronald ; Arts, Heleen H.

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643 [Peer Reviewed Journal]

Cambridge, MA: Elsevier Inc

Full text available

Citations Cited by
8
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
Material Type:
Article 		Add to e-Shelf

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

Huigsloot, Merei ; Nijtmans, Leo G. ; Szklarczyk, Radek ; Baars, Marieke J.H. ; van den Brand, Mariël A.M. ; HendriksFranssen, Marthe G.M. ; van den Heuvel, Lambertus P. ; Smeitink, Jan A.M. ; Huynen, Martijn A. ; Rodenburg, Richard J.T.

American journal of human genetics, 2011-04, Vol.88 (4), p.488-493 [Peer Reviewed Journal]

Cambridge, MA: Elsevier Inc

Full text available

Citations Cited by
9
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia
Material Type:
Article 		Add to e-Shelf

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

Dam, Anika H.D.M. ; Koscinski, Isabelle ; Kremer, Jan A.M. ; Moutou, Céline ; Jaeger, Anne-Sophie ; Oudakker, Astrid R. ; Tournaye, Herman ; Charlet, Nicolas ; Lagier-Tourenne, Clotilde ; van Bokhoven, Hans ; Viville, Stéphane

American journal of human genetics, 2007-10, Vol.81 (4), p.813-820 [Peer Reviewed Journal]

Chicago, IL: Elsevier Inc

Full text available

Citations Cited by
10
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
Material Type:
Article 		Add to e-Shelf

DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

Richard, Melissa A. ; Huan, Tianxiao ; Ligthart, Symen ; Gondalia, Rahul ; Jhun, Min A. ; Brody, Jennifer A. ; Irvin, Marguerite R. ; Montasser, May E. ; Jia, Yucheng ; Syme, Catriona ; Salfati, Elias L. ; Boerwinkle, Eric ; Guan, Weihua ; Mosley, Thomas H. ; Bressler, Jan ; Morrison, Alanna C. ; Liu, Chunyu ; Mendelson, Michael M. ; Uitterlinden, André G. ; van Meurs, Joyce B. ; ’t Hoen, Peter A.C. ; van Meurs, Joyce ; Isaacs, Aaron ; Franke, Lude ; Boomsma, Dorret I. ; Pool, René ; Hottenga, Jouke J. ; van Greevenbroek, Marleen M.J. ; Stehouwer, Coen D.A. ; Wijmenga, Cisca ; Zhernakova, Alexandra ; Slagboom, P. Eline ; Beekman, Marian ; Deelen, Joris ; van Heemst, Diana ; Veldink, Jan H. ; van den Berg, Leonard H. ; van Duijn, Cornelia M. ; Hofman, Albert ; Uitterlinden, André G. ; Jhamai, P. Mila ; Verbiest, Michael ; Suchiman, H. Eka D. ; Verkerk, Marijn ; van der Breggen, Ruud ; van Rooij, Jeroen ; Lakenberg, Nico ; Mei, Hailiang ; van Iterson, Maarten ; van Galen, Michiel ; Bot, Jan ; Nooren, Irene ; Moed, Matthijs ; Vermaat, Martijn ; Zhernakova, Dasha V. ; Luijk, René ; Bonder, Marc Jan ; van Dijk, Freerk ; Arindrarto, Wibowo ; Kielbasa, Szymon M. ; Swertz, Morris A. ; van Zwet, Erik W. ; Franco, Oscar H. ; Zhang, Guosheng ; Li, Yun ; Stewart, James D. ; Bis, Joshua C. ; Psaty, Bruce M. ; Chen, Yii-Der Ida ; Kardia, Sharon L.R. ; Zhao, Wei ; Absher, Devin ; Aslibekyan, Stella ; Starr, John M. ; McRae, Allan F. ; Schwartz, Joel D. ; Vokonas, Pantel S. ; Menni, Cristina ; Spector, Tim D. ; Shuldiner, Alan ; Damcott, Coleen M. ; Rotter, Jerome I. ; Palmas, Walter ; Liu, Yongmei ; Paus, Tomáš ; Horvath, Steve ; O’Connell, Jeffrey R. ; Guo, Xiuqing ; Pausova, Zdenka ; Assimes, Themistocles L. ; Sotoodehnia, Nona ; Smith, Jennifer A. ; Arnett, Donna K. ; Deary, Ian J. ; Baccarelli, Andrea A. ; Bell, Jordana T. ; Whitsel, Eric ; Dehghan, Abbas ; Levy, Daniel ; Fornage, Myriam

American journal of human genetics, 2017-12, Vol.101 (6), p.888-902 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available

Citations Cited by
Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Refine My Results

Resource Type 

  1. Articles  (229)
  2. Reviews  (1)
  3. More options open sub menu

Creation Date 

From To
Refine
  1. Before1994  (13)
  2. 1994To2000  (46)
  3. 2001To2007  (51)
  4. 2008To2015  (65)
  5. After 2015  (56)
  6. More options open sub menu

Suggested New Searches

Ignore my query and look for everything

by this author/creator:

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

on this subject:

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

  • Implemented by: ABCD-USP USP   Social Network Logos: Freepik

Searching Remote Databases, Please Wait

  • Searching for
  • inscope:(USP_VIDEOS),scope:("PRIMO"),scope:(USP_FISICO),scope:(USP_EREVISTAS),scope:(USP),scope:(USP_EBOOKS),scope:(USP_PRODUCAO),primo_central_multiple_fe
  • Show me what you have so far