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	1.	Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. [electronic resource] by Hoskins, Bethan E Thorn, Anita Scambler, Peter J Beales, Philip L Producer: 20040220 In: Human mutation vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. [electronic resource] by Chaib, Hassan Hoskins, Bethan E Ashraf, Shazia Goyal, Meera Wiggins, Roger C Hildebrandt, Friedhelm Producer: 20080304 In: American journal of physiology. Renal physiology vol. 294 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). [electronic resource] by Wolf, Matthias T F Hoskins, Bethan E Beck, Bodo B Hoppe, Bernd Tasic, Velibor Otto, Edgar A Hildebrandt, Friedhelm Producer: 20090416 In: Pediatric nephrology (Berlin, Germany) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. [electronic resource] by Hoskins, Bethan E Cramer, Carl H Tasic, Velibor Kehinde, Elijah O Ashraf, Shazia Bogdanovic, Radovan Hoefele, Julia Pohl, Martin Hildebrandt, Friedhelm Producer: 20080715 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. [electronic resource] by Heeringa, Saskia F Vlangos, Christopher N Chernin, Gil Hinkes, Bernward Gbadegesin, Rasheed Liu, Jinhong Hoskins, Bethan E Ozaltin, Fatih Hildebrandt, Friedhelm Producer: 20090302 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. [electronic resource] by Katsanis, Nicholas Eichers, Erica R Ansley, Stephen J Lewis, Richard Alan Kayserili, Hülya Hoskins, Bethan E Scambler, Peter J Beales, Philip L Lupski, James R Producer: 20020726 In: American journal of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. [electronic resource] by Pereiro, Ines Hoskins, Bethan E Marshall, Jan D Collin, Gayle B Naggert, Jürgen K Piñeiro-Gallego, Teresa Oitmaa, Eneli Katsanis, Nicholas Valverde, Diana Beales, Philip L Producer: 20110706 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. [electronic resource] by Ashraf, Shazia Hoskins, Bethan E Chaib, Hassan Hoefele, Julia Pasch, Andreas Saisawat, Pawaree Trefz, Friedrich Hacker, Hans W Nuernberg, Gudrun Nuernberg, Peter Otto, Edgar A Hildebrandt, Friedhelm Producer: 20100809 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. [electronic resource] by Saisawat, Pawaree Tasic, Velibor Vega-Warner, Virginia Kehinde, Elijah O Günther, Barbara Airik, Rannar Innis, Jeffrey W Hoskins, Bethan E Hoefele, Julia Otto, Edgar A Hildebrandt, Friedhelm Producer: 20120504 In: Kidney international vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. [electronic resource] by Badano, Jose L Kim, Jun Chul Hoskins, Bethan E Lewis, Richard Alan Ansley, Stephen J Cutler, David J Castellan, Claudio Beales, Philip L Leroux, Michel R Katsanis, Nicholas Producer: 20031003 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. [electronic resource] by Kulaga, Heather M Leitch, Carmen C Eichers, Erica R Badano, Jose L Lesemann, Alysa Hoskins, Bethan E Lupski, James R Beales, Philip L Reed, Randall R Katsanis, Nicholas Producer: 20041004 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. [electronic resource] by Mucha, Bettina Ozaltin, Fatih Hinkes, Bernward G Hasselbacher, Katrin Ruf, Rainer G Schultheiss, Michael Hangan, Daniela Hoskins, Bethan E Everding, Anne Schulze Bogdanovic, Radovan Seeman, Thomas Hoppe, Bernd Hildebrandt, Friedhelm Producer: 20060518 In: Pediatric research vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. [electronic resource] by Beales, Philip L Badano, Jose L Ross, Alison J Ansley, Stephen J Hoskins, Bethan E Kirsten, Brigitta Mein, Charles A Froguel, Philippe Scambler, Peter J Lewis, Richard Alan Lupski, James R Katsanis, Nicholas Producer: 20030701 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. [electronic resource] by Hoskins, Bethan E Cramer, Carl H Silvius, Derek Zou, Dan Raymond, Richard M Orten, Dana J Kimberling, William J Smith, Richard J H Weil, Dominique Petit, Christine Otto, Edgar A Xu, Pin-Xian Hildebrandt, Friedhelm Producer: 20070718 In: American journal of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. [electronic resource] by Kim, Jun Chul Badano, Jose L Sibold, Sonja Esmail, Muneer A Hill, Josephine Hoskins, Bethan E Leitch, Carmen C Venner, Kerrie Ansley, Stephen J Ross, Alison J Leroux, Michel R Katsanis, Nicholas Beales, Philip L Producer: 20040525 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). [electronic resource] by Gbadegesin, Rasheed Hinkes, Bernward G Hoskins, Bethan E Vlangos, Christopher N Heeringa, Saskia F Liu, Jinhong Loirat, Chantal Ozaltin, Fatih Hashmi, Seema Ulmer, Francis Cleper, Roxanna Ettenger, Robert Antignac, Corinne Wiggins, Roger C Zenker, Martin Hildebrandt, Friedhelm Producer: 20080501 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. [electronic resource] by Ansley, Stephen J Badano, Jose L Blacque, Oliver E Hill, Josephine Hoskins, Bethan E Leitch, Carmen C Kim, Jun Chul Ross, Alison J Eichers, Erica R Teslovich, Tanya M Mah, Allan K Johnsen, Robert C Cavender, John C Lewis, Richard Alan Leroux, Michel R Beales, Philip L Katsanis, Nicholas Producer: 20031104 In: Nature vol. 425 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	A systematic approach to mapping recessive disease genes in individuals from outbred populations. [electronic resource] by Hildebrandt, Friedhelm Heeringa, Saskia F Rüschendorf, Franz Attanasio, Massimo Nürnberg, Gudrun Becker, Christian Seelow, Dominik Huebner, Norbert Chernin, Gil Vlangos, Christopher N Zhou, Weibin O'Toole, John F Hoskins, Bethan E Wolf, Matthias T F Hinkes, Bernward G Chaib, Hassan Ashraf, Shazia Schoeb, Dominik S Ovunc, Bugsu Allen, Susan J Vega-Warner, Virginia Wise, Eric Harville, Heather M Lyons, Robert H Washburn, Joseph Macdonald, James Nürnberg, Peter Otto, Edgar A Producer: 20090326 In: PLoS genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. [electronic resource] by 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 Hildebrandt, Friedhelm Producer: 20070216 In: Nature genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. [electronic resource] by O'Toole, John F Liu, Yangjian Davis, Erica E Westlake, Christopher J Attanasio, Massimo Otto, Edgar A Seelow, Dominik Nurnberg, Gudrun Becker, Christian Nuutinen, Matti Kärppä, Mikko Ignatius, Jaakko Uusimaa, Johanna Pakanen, Salla Jaakkola, Elisa van den Heuvel, Lambertus P Fehrenbach, Henry Wiggins, Roger Goyal, Meera Zhou, Weibin Wolf, Matthias T F Wise, Eric Helou, Juliana Allen, Susan J Murga-Zamalloa, Carlos A Ashraf, Shazia Chaki, Moumita Heeringa, Saskia Chernin, Gil Hoskins, Bethan E Chaib, Hassan Gleeson, Joseph Kusakabe, Takehiro Suzuki, Takako Isaac, R Elwyn Quarmby, Lynne M Tennant, Bryan Fujioka, Hisashi Tuominen, Hannu Hassinen, Ilmo Lohi, Hellevi van Houten, Judith L Rotig, Agnes Sayer, John A Rolinski, Boris Freisinger, Peter Madhavan, Sethu M Herzer, Martina Madignier, Florence Prokisch, Holger Nurnberg, Peter Jackson, Peter K Jackson, Peter Khanna, Hemant Katsanis, Nicholas Hildebrandt, Friedhelm Producer: 20100331 In: The Journal of clinical investigation vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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