Recerca

Àrea 5

Genètica

Factor d'impacte: mitjana: 3.87, total: 116.01

Articles de l'any 2010
Original
  • Motor and mental dysfunction in mother-daughter transmitted FXTAS

    Rodriguez-Revenga L, Pagonabarraga J, Gomez-Anson B, Lopez-Mourelo O, Madrigal I, Xuncla M, Kulisevsky J, Mila M
    NEUROLOGY. 2010; 75: 1370-1376. IF: 8.172

  • Familial and Sporadic Porphyria Cutanea Tarda Clinical and Biochemical Features and Risk Factors in 152 Patients

    Munoz-Santos C, Guilabert A, Moreno N, To-Figueras J, Badenas C, Darwich E, Herrero C
    MEDICINE. 2010; 89: 69-74. IF: 5.054

  • Hepatoerythropoietic Porphyria and Familial Porphyria Cutanea Tarda in Spanish Patients: G281E Mutation in the Uroporphyrinogen Decarboxylase Gene

    Darwich E, To-Figueras J, Badenas C, Herrero C
    ARCH DERMATOL. 2010; 146: 1313-1314. IF: 4.76

  • Comparative analysis of subacute cutaneous lupus erythematosus and chronic cutaneous lupus erythematosus: clinical and immunological study of 270 patients

    Vera-Recabarren MA, Garcia-Carrasco M, Ramos-Casals M, Herrero C
    BRIT J DERMATOL. 2010; 162: 91-101. IF: 4.26

  • Chromosomal anomaly spectrum in early pregnancy loss in relation to presence or absence of an embryonic pole

    Munoz M, Arigita M, Bennasar M, Soler A, Sanchez A, Borrell A
    FERTIL STERIL. 2010; 94: 2564-2568. IF: 3.97

  • X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17 beta-hydroxysteroid dehydrogenase 10 deficiency

    Garcia-Villoria J, Gort L, Madrigal I, Fons C, Fernandez C, Navarro-Sastre A, Mila M, Briones P, Garcia-Cazorla A, Campistol J, Ribes A
    EUR J HUM GENET. 2010; 18: 1353-1355. IF: 3.564

  • Assessment of QF-PCR as the First Approach in Prenatal Diagnosis

    Badenas C, Rodriguez-Revenga L, Morales C, Mediano C, Plaja A, Perez-Iribarne MM, Soler A, Clusellas N, Borrell A, Sanchez MA, Miro E, Sanchez A, Mila M, Jimenez W
    J MOL DIAGN. 2010; 12: 828-834. IF: 3.413

  • Prevalence and perinatal outcome of dichorionic and monochorionic twins with nuchal translucency above the 99(th) percentile and normal karyotype

    Gonce A, Borrell A, Meler E, Arigita M, Martinez JM, Botet F, Sanchez A, Gratacos E
    ULTRASOUND OBST GYN. 2010; 35: 14-18. IF: 3.154

  • Correlation of Immunological Profile with Phenotype and Disease Outcome in Pemphigus

    Herrero-Gonzalez JE, Iranzo P, Benitez D, Lozano F, Herrero C, Mascaro JM
    ACTA DERM-VENEREOL. 2010; 90: 401-405. IF: 3.007

  • Discovery of genomic alterations through coregulation analysis of closely linked genes: a frequent gain in 17q25.3 in prostate cancer

    Bermudo R, Abia D, Benitez D, Carrio A, Vilella R, Ortiz AR, Thomson TM, Fernandez PL
    ANN NY ACAD SCI. 2010; 1210: 17-24. IF: 2.67

  • Preliminary report Hyperhomocysteinemia in patients with acute intermittent porphyria

    To-Figueras J, Lopez RM, Deulofeu R, Herrero C
    METABOLISM. 2010; 59: 1809-1810. IF: 2.588

  • Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

    Madrigal I, Fernandez-Burriel M, Rodriguez-Revenga L, Cabrera JC, Marti M, Mur A, Mila M
    J HUM GENET. 2010; 55: 822-826. IF: 2.547

  • CDKN1C (p57(Kip2)) Analysis in Beckwith-Wiedemann Syndrome (BWS) Patients: Genotype-Phenotype Correlations, Novel Mutations, and Polymorphisms

    Romanelli V, Belinchon A, Benito-Sanz S, Martinez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, Garcia-Minaur S, Fernandez L, Meneses H, Lopez-Siguero JP, Guillen-Navarro E, Gomez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sanchez A, DelCampo M, Lapunzina P
    AM J MED GENET A. 2010; 152: 1390-1397. IF: 2.404

  • Description of the Smallest Critical Region for Dandy-Walker Malformation in Chromosome 13 in a Girl With a Cryptic Deletion Related to t(6;13) (q23;q32)

    Mademont-Soler I, Morales C, Armengol L, Soler A, Sanchez A
    AM J MED GENET A. 2010; 152: 2308-2312. IF: 2.404

  • Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses

    Xuncla M, Badenas C, Dominguez M, Rodriguez-Revenga L, Madrigal I, Jimenez L, Soler A, Borrell A, Sanchez A, Mila M
    REPROD BIOMED ONLINE. 2010; 21: 560-565. IF: 2.38

  • Study of the BMPR2 Gene in Patients with Pulmonary Arterial Hypertension

    Portillo K, Santos S, Madrigal I, Blanco I, Pare C, Borderias L, Peinado VI, Roca J, Mila M, Barbera JA
    ARCH BRONCONEUMOL. 2010; 46: 129-134. IF: 2.166

  • Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction

    Xuncla M, Rodriguez-Revenga L, Madrigal I, Jimenez D, Mila M, Badenas C
    TRANSL RES. 2010; 156: 309-314. IF: 2.062

  • Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study

    Demenais F, Mohamdi H, Chaudru V, Goldstein AM, Bishop JAN, Bishop DT, Kanetsky PA, Hayward NK, Gillanders E, Elder DE, Avril MF, Azizi E, VanBelle P, Bergman W, Bianchi-Scarra G, Bressac-DePaillerets B, Calista D, Carrera C, Hansson J, Harland M, Hogg D, Hoiom V, Holland EA, Ingvar C, Landi MT, Lang JM, Mackie RM, Mann GJ, Ming ME, Njauw CJ, Olsson H, Palmer J, Pastorino L, Puig S, Randerson-Moor J, Stark M, Tsao H, Tucker MA, VanDerVelden P, Yang XR, Gruis N
    J NATL CANCER I. 2010; 102: 1568-1583. IF: 14.069

  • Subtelomeric MLPA: is it really useful in prenatal diagnosis?

    Mademont-Soler I, Morales C, Bruguera J, Madrigal I, Clusellas N, Margarit E, Sanchez A, Soler A
    PRENATAL DIAG. 2010; 30: 1165-1169. IF: 1.707

  • Non-mosaic trisomy 20 of paternal origin in chorionic villus and amniotic fluid also detected in fetal blood and other tissues

    Morales C, Cuatrecasas E, Mademont-Soler I, Clusellas N, Peruga E, Catala V, Garrido C, Mila M, Soler A, Sanchez A
    EUR J MED GENET. 2010; 53: 197-200. IF: 1.568

  • Cutaneous lupus erythematosus: clinical and immunological study of 308 patients stratified by gender

    Vera-Recabarren MA, Garcia-Carrasco M, Ramos-Casals M, Herrero C
    CLIN EXP DERMATOL. 2010; 35: 729-735. IF: 1.55

  • A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation

    Madrigal I, Rodriguez-Revenga L, Costa L, Xuncla M, Sanchez A, Mila M
    REV NEUROLOGIA. 2010; 51: 465-470. IF: 1.234

Revisió
  • State of the art in therapeutic drug monitoring

    Fernandez EL, Pares L, Ajuria I, Bandres F, Castanyer B, Campos F, Farre C, Pou L, Queralto JM, To-Figueras J
    CLIN CHEM LAB MED. 2010; 48: 437-446. IF: 1.886

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