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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
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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

Localização: FM - Fac. Medicina    (BCSEP 2002 239 )(Acessar)

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:
Artigo 		Adicionar ao Meu Espaço

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

Localização: FM - Fac. Medicina    (BCSEP 2002 239 )(Acessar)

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
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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

Localização: FM - Fac. Medicina    (BCSEP 091 2017 )(Acessar)

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
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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 [Periódico revisado por pares]

United States: Elsevier Inc

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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
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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 [Periódico revisado por pares]

United States: Elsevier Inc

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6
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

van der Knaap, Marjo S. ; van Berkel, Carola G.M. ; Herms, Jochen ; van Coster, Rudy ; Baethmann, Martina ; Naidu, Sakkubai ; Boltshauser, Eugen ; Willemsen, Michèl A.A.P. ; Plecko, Barbara ; Hoffmann, Georg F. ; Proud, Christopher G. ; Scheper, Gert C. ; Pronk, Jan C.

American journal of human genetics, 2003-11, Vol.73 (5), p.1199-1207 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
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
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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 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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8
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility
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ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility

Broeks, Annegien ; Urbanus, Jos H.M. ; Floore, Arno N. ; Dahler, Ellen C. ; Klijn, Jan G.M. ; Rutgers, Emiel J. Th ; Devilee, Peter ; Russell, Nicola S. ; van Leeuwen, Flora E. ; van't Veer, Laura J.

American journal of human genetics, 2000-02, Vol.66 (2), p.494-500 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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9
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
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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 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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10
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
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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 [Periódico revisado por pares]

Cambridge, MA: 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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