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Pathogenesis of renal calculi

Author(s): Ehud Gnessin | Ehud Gnessin | Andrew P. Evan
Etiopathology of chronic tubular, glomerular and renovascular nephropathies: Clinical implications

Author(s): López-Novoa José | Rodríguez-Peña Ana | Ortiz Alberto | Martínez-Salgado Carlos | López Hernández Francisco
alpha-Actinin-4-Mediated FSGS: An Inherited Kidney Disease Caused by an Aggregated and Rapidly Degraded Cytoskeletal Protein

Author(s): Yao June | Le Tu Cam | Kos Claudine H | Henderson Joel M | Allen Phillip G | Denker Bradley M | Pollak Martin R
Low frequency of defective mismatch repair in a population-based series of upper urothelial carcinoma

Author(s): Ericson Kajsa | Isinger Anna | Isfoss Björn | Nilbert Mef
Differential expression of a new isoform of DLG2 in renal oncocytoma

Author(s): Zubakov Dmitry | Stupar Zorica | Kovacs Gyula
Autism and X-linked hypophosphatemia: A possible association?

Author(s): Joel Vermeersch | Hans Hellemans | Dirk Deboutte
Can urinary exosomes act as treatment response markers in prostate cancer?

Author(s): Mitchell Paul | Welton Joanne | Staffurth John | Court Jacquelyn | Mason Malcolm | Tabi Zsuzsanna | Clayton Aled
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Author(s): Tyson Christine | Qiao Ying | Harvard Chansonette | Liu Xudong | Bernier Francois | McGillivray Barbara | Farrell Sandra | Arbour Laura | Chudley Albert | Clarke Lorne | Gibson William | Dyack Sarah | McLeod Ross | Costa Teresa | VanAllen Margot | Yong Siu-li | Graham Gail | MacLeod Patrick | Patel Millan | Hurlburt Jane | Holden Jeanette | Lewis Suzanne | Rajcan-Separovic Evica
Bartter and Gitelman syndromes: a review of genetic, physiopathological and clinical aspects Síndromes de Bartter y Gitelman: revisión de los aspectos genéticos, fisiopatológicos y clínicos

Author(s): Lina María Serna Higuita | Lina Maria Betancur Londoño | Carlos Mauricio Medina Vasquez | Nicolás Pineda Trujillo | Juan José Vanegas Ruiz
CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma

Author(s): McRonald Fiona | Morris Mark | Gentle Dean | Winchester Laura | Baban Dilair | Ragoussis Jiannis | Clarke Noel | Brown Michael | Kishida Takeshi | Yao Masahiro | Latif Farida | Maher Eamonn
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease

Author(s): Stekrova Jitka | Reiterova Jana | Svobodova Stanislava | Kebrdlova Vera | Lnenicka Petr | Merta Miroslav | Viklicky Ondrej | Kohoutova Milada
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes

Author(s): Bangiyeva Valentina | Rosenbloom Ava | Alexander Ashlynn | Isanova Bella | Popko Timothy | Schoenfeld Alan
Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene

Author(s): Kanda Kyoko | Nozu Kandai | Yokoyama Naoki | Morioka Ichiro | Miwa Akihiro | Hashimura Yuya | Kaito Hiroshi | Iijima Kazumoto | Matsuo Masafumi
Frequency of Fabry disease in male and female haemodialysis patients in Spain

Author(s): Gaspar Paulo | Herrera Julio | Rodrigues Daniel | Cerezo Sebastián | Delgado Rodrigo | Andrade Carlos | Forascepi Ramón | Macias Juan | del Pino Maria | Prados Maria | de Alegria Pilar | Torres Gerardo | Vidau Pedro | Sá-Miranda Maria
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Author(s): Mejia-Gaviria Natalia | Gil-Peña Helena | Coto Eliecer | Pérez-Menéndez Teresa | Santos Fernando
A review of trisomy X (47,XXX)

Author(s): Tartaglia Nicole | Howell Susan | Sutherland Ashley | Wilson Rebecca | Wilson Lennie
Enteropathy associated T-cell lymphoma

Author(s): Bakrač Milena | Bonači-Nikolić Branka | Čolović Nataša | Simić-Ogrizović Sanja | Krstić Miodrag | Čolović Milica
Identification of a novel mutation in an Indian patient with CAII deficiency syndrome

Author(s): Shivaprasad C | Paliwal P | Khadgawat R | Sharma A
Dent's disease

Author(s): Devuyst Olivier | Thakker Rajesh
TUMOR ANGIOGENESIS–IMPLICATIONS IN CANCER THERAPY

Author(s): L. Miron | B. Gafton | M. Marinca
Lack of α8 integrin leads to morphological changes in renal mesangial cells, but not in vascular smooth muscle cells

Author(s): Marek Ines | Volkert Gudrun | Jahn Angelika | Fahlbusch Fabian | Zürn Christina | Özcan Zehra | Goppelt-Struebe Margarete | Hilgers Karl | Rascher Wolfgang | Hartner Andrea
Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression

Author(s): Klomp Jeff | Petillo David | Niemi Natalie | Dykema Karl | Chen Jindong | Yang Ximing | Sääf Annika | Zickert Peter | Aly Markus | Bergerheim Ulf | Nordenskjöld Magnus | Gad Sophie | Giraud Sophie | Denoux Yves | Yonneau Laurent | Méjean Arnaud | Vasiliu Viorel | Richard Stéphane | MacKeigan Jeffrey | Teh Bin | Furge Kyle
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Author(s): Morcel Karine | Watrin Tanguy | Pasquier Laurent | Rochard Lucie | Le Caignec Cédric | Dubourg Christèle | Loget Philippe | Paniel Bernard-Jean | Odent Sylvie | David Véronique | Pellerin Isabelle | Bendavid Claude | Guerrier Daniel
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

Author(s): Gould Douglas | Jaafar Mohamad | Addison Mark | Munier Francis | Ritch Robert | MacDonald Ian | Walter Michael
Clinical and inheritance profiles of Kallmann syndrome in Jordan

Author(s): AbuJbara Mousa | Hamamy Hanan | Jarrah Nadim | Shegem Nadima | Ajlouni Kamel
A generic RNA-pulsed dendritic cell vaccine strategy for renal cell carcinoma

Author(s): Geiger Christiane | Regn Sybille | Weinzierl Andreas | Noessner Elfriede | Schendel Dolores
Alterations of renal phenotype and gene expression profiles due to protein overload in NOD-related mouse strains

Author(s): Wilson Karen | McIndoe Richard | Eckenrode Sarah | Morel Laurence | Agarwal Anupam | Croker Byron | She Jin-Xiong
A role for CETP TaqIB polymorphism in determining susceptibility to atrial fibrillation: a nested case control study

Author(s): Asselbergs Folkert | Moore Jason | van den Berg Maarten | Rimm Eric | de Boer Rudolf | Dullaart Robin | Navis Gerjan | van Gilst Wiek
Cri du Chat syndrome

Author(s): Cerruti Mainardi Paola
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports

Author(s): Cupples L Adrienne | Arruda Heather | Benjamin Emelia | D'Agostino Ralph | Demissie Serkalem | DeStefano Anita | Dupuis Josée | Falls Kathleen | Fox Caroline | Gottlieb Daniel | Govindaraju Diddahally | Guo Chao-Yu | Heard-Costa Nancy | Hwang Shih-Jen | Kathiresan Sekar | Kiel Douglas | Laramie Jason | Larson Martin | Levy Daniel | Liu Chun-Yu | Lunetta Kathryn | Mailman Matthew | Manning Alisa | Meigs James | Murabito Joanne | Newton-Cheh Christopher | O'Connor George | O'Donnell Christopher | Pandey Mona | Seshadri Sudha | Vasan Ramachandran | Wang Zhen | Wilk Jemma | Wolf Philip | Yang Qiong | Atwood Larry
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

Author(s): Chandler Randy | Sloan Jennifer | Fu Hong | Tsai Matthew | Stabler Sally | Allen Robert | Kaestner Klaus | Kazazian Haig | Venditti Charles
Prediction potential of candidate biomarker sets identified and validated on gene expression data from multiple datasets

Author(s): Gormley Michael | Dampier William | Ertel Adam | Karacali Bilge | Tozeren Aydin
Analysis of Regulatory T Cell Function from Kidney Transplant Patients on MMF based Immunosuppressive Protocol

Author(s): I. Tsaur | M. Gasser | K. Lopau | M. Bueter | A. Trumpfheller | M. Dragan | A. Opitz | J. E. Kist-van-Holthe | M. Clarkson | S. Mueller | A. Thiede | D. Meyer | A. M. Waaga-Gasser
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family

Author(s): Patocs Attila | Gergics Peter | Balogh Katalin | Toth Miklos | Fazakas Ferenc | Liko Istvan | Racz Karoly
Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Author(s): Kharrat M | Makni S | Makni K | Kammoun K | Charfeddine K | Azaeiz H | Jarraya F | Hmida M | Gubler M | Ayadi H | Hachicha J
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

Author(s): Morey Marcos | Castro-Feijóo Lidia | Barreiro Jesús | Cabanas Paloma | Pombo Manuel | Gil Marta | Bernabeu Ignacio | Díaz-Grande José | Rey-Cordo Lourdes | Ariceta Gema | Rica Itxaso | Nieto José | Vilalta Ramón | Martorell Loreto | Vila-Cots Jaime | Aleixandre Fernando | Fontalba Ana | Soriano-Guillén Leandro | García-Sagredo José | García-Miñaur Sixto | Rodríguez Berta | Juaristi Saioa | García-Pardos Carmen | Martínez-Peinado Antonio | Millán José | Medeira Ana | Moldovan Oana | Fernandez Angeles | Loidi Lourdes
The expression and role of protein kinase C (PKC) epsilon in clear cell renal cell carcinoma

Author(s): Huang Bin | Cao Kaiyuan | Li Xiubo | Guo Shengjie | Mao Xiaopeng | Wang Zhu | Zhuang Jintao | Pan Jincheng | Mo Chengqiang | Chen Junxing | Qiu Shaopeng
Unique phenotype in a patient with CHARGE syndrome

Author(s): Jain Shobhit | Kim Hyung-Goo | Lacbawan Felicitas | Meliciani Irene | Wenzel Wolfgang | Kurth Ingo | Sharma Josefina | Schoeneman Morris | Ten Svetlana | Layman Lawrence | Jacobson-Dickman Elka
Role of P-Glycoprotein Expression and Function in Cystinotic Renal Proximal Tubular Cells

Author(s): Karen Peeters | Martijn J. Wilmer | Joost P. Schoeber | Dorien Reijnders | Lambertus P. van den Heuvel | Rosalinde Masereeuw | Elena Levtchenko
Renal cell carcinoma primary cultures maintain genomic and phenotypic profile of parental tumor tissues

Author(s): Cifola Ingrid | Bianchi Cristina | Mangano Eleonora | Bombelli Silvia | Frascati Fabio | Fasoli Ester | Ferrero Stefano | Di Stefano Vitalba | Zipeto Maria | Magni Fulvio | Signorini Stefano | Battaglia Cristina | Perego Roberto
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