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    1. Hernandez, OM; Housmans, PR; Potter, JD
      Plasticity in skeletal cardiac, and smooth muscle - Invited review: Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation

      JOURNAL OF APPLIED PHYSIOLOGY
    2. Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M
      A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    3. Radu, P; Atsmon, J
      Gilbert's syndrome - Clinical and pharmacological implications

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    4. Meyer, D; Fressinaud, E; Hilbert, L; Ribba, AS; Lavergne, JM; Mazurier, C
      Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    5. Owen, K; Hattersley, AT
      Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    6. Watkins, H
      Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    7. Schulze-Bahr, E; Haverkamp, W; Eckardt, L; Kirchhof, P; Wedekind, H; Breithardt, G
      Genetic aspects in acquired long QT syndrome - a piece in the puzzle

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    8. Andersson, L
      Genetic dissection of phenotypic diversity in farm animals

      NATURE REVIEWS GENETICS
    9. Yamada, Y; Ichihara, S; Izawa, H; Tanaka, M; Yokota, M
      Association of a G(994) -> T (Val(279) -> Phe) polymorphism of the plasma platelet-activating factor acetylhydrolase gene with myocardial damage in Japanese patients with nonfamilial hypertrophic cardiomyopathy

      JOURNAL OF HUMAN GENETICS
    10. Hara, M; Wang, XY; Paz, VP; Iwasaki, N; Honda, M; Iwamoto, Y; Bell, GI
      Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young

      JOURNAL OF HUMAN GENETICS
    11. Hirai, H; Nakajima, S; Miyauchi, A; Nishimura, K; Shimizu, N; Shima, M; Michigami, T; Ozono, K; Okada, S
      A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

      JOURNAL OF HUMAN GENETICS
    12. Kowalska, A; Asada, T; Arima, K; Kumakiri, C; Kozubski, W; Takahashi, K; Tabira, T
      Genetic analysis in patients with familial and sporadic frontotemporal dementia: Two tau mutations in only familial cases and no association with apolipoprotein epsilon 4

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    13. Robinson, PN; Booms, P
      The molecular pathogenesis of the Marfan syndrome

      CELLULAR AND MOLECULAR LIFE SCIENCES
    14. Shamim, W; Yousufuddin, M; Francis, DP; Gualdiero, P; Honour, JW; Anker, SD; Coats, AJS
      Raised urinary glucocorticoid and adrenal androgen precursors in the urineof young hypertensive patients: possible evidence for partial glucocorticoid resistance

      HEART
    15. Zeviani, M; Klopstock, T
      Mitochondrial disorders

      CURRENT OPINION IN NEUROLOGY
    16. Haider, MZ; Devarajan, LV; Al-Essa, M; Srivastva, BS; Kumar, H; Azad, R; Rashwan, N
      Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages

      PEDIATRICS INTERNATIONAL
    17. Kuster, T; Happle, R; Hoffmann, R; Freyschmidt-Paul, P
      Guess what! Atrichia with papular lesions

      EUROPEAN JOURNAL OF DERMATOLOGY
    18. Palau, F
      Friedreich's ataxia and frataxin: Molecular genetics, evolution and pathogenesis (Review)

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    19. Pusch, CM; Maurer, J; Ramser, J; Tomiuk, J; Achatz, H; Pesch, K; Lichtner, P; Apfelstedt-Sylla, E; Jacobi, FK; Berger, W; Meindl, A; Wissinger, B
      Complete form of X-linked congenital stationary night blindness: Refined mapping and evidence of genetic homogeneity

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    20. Lahjouji, K; Mitchell, GA; Qureshi, IA
      Carnitine transport by organic cation transporters and systemic carnitine deficiency

      MOLECULAR GENETICS AND METABOLISM
    21. Prescott, SM; McIntyre, TM; Zimmerman, GA
      Events at the vascular wall: The molecular basis of inflammation

      JOURNAL OF INVESTIGATIVE MEDICINE
    22. Nagano, M; Yamashita, S; Hirano, K; Kujiraoka, T; Ito, M; Sagehashi, Y; Hattori, H; Nakajima, N; Maruyama, T; Sakai, N; Egashira, T; Matsuzawa, Y
      Point mutation (-69 G -> A) in the promoter region of cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    23. Fraunberg, MVZ; Tenhunen, R; Kauppinen, R
      Expression and characterization of six mutations in the protoporphyrinogenoxidase gene among Finnish variegate porphyria patients

      MOLECULAR MEDICINE
    24. Fuchs, S; Amiel, J; Claudel, S; Lyonnet, S; Corvol, P; Pinet, F
      Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: Evidence for selective lossof G(i) coupling

      MOLECULAR MEDICINE
    25. Kanelis, V; Rotin, D; Forman-Kay, JD
      Solution structure of a Nedd4 WW domain-ENaC peptide complex

      NATURE STRUCTURAL BIOLOGY
    26. Sklar, P
      The genomic approach to candidate genes

      HARVARD REVIEW OF PSYCHIATRY
    27. Kyuma, M; Ura, N; Torii, T; Takeuchi, H; Takizawa, H; Kitamura, K; Tomita, K; Sasaki, S; Shimamoto, K
      A family with Liddle's syndrome caused by a mutation in the beta subunit of the epithelial sodium channel

      CLINICAL AND EXPERIMENTAL HYPERTENSION
    28. Goudeau, B; Dagvadorj, A; Rodrigues-Lima, F; Nedellec, P; Casteras-Simon, M; Perret, E; Langlois, S; Goldfarb, L; Vicart, P
      Structural and functional analysis of a new desmin variant causing desmin-related myopathy

      HUMAN MUTATION
    29. Weller, S; Gartner, J
      Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene

      HUMAN MUTATION
    30. Mostacciuolo, ML; Righetti, E; Zortea, M; Bosello, V; Schiavon, F; Vallo, L; Merlini, L; Siciliano, G; Fabrizi, GM; Rizzuto, N; Milani, M; Baratta, S; Taroni, F
      Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:Mutation analysis in a large cohort of Italian families

      HUMAN MUTATION
    31. Wang, Z; Moult, J
      SNPs, protein structure, and disease

      HUMAN MUTATION
    32. Edwards, SM; Kote-Jarai, Z; Hamoudi, R; Eeles, RA
      An improved high throughput heteroduplex mutation detection system for screening BRCA2 mutations - Fluorescent mutation detection (F-MD)

      HUMAN MUTATION
    33. Delaunoy, JP; Abidi, F; Zeniou, M; Jacquot, S; Merienne, K; Pannetier, S; Schmitt, M; Schwartz, CE; Hanauer, A
      Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

      HUMAN MUTATION
    34. McVey, JH; Boswell, E; Mumford, AD; Kemball-Cook, G; Tuddenham, EGD
      Factor VII deficiency and the FVII mutation database

      HUMAN MUTATION
    35. Ikehara, Y; Nishihara, S; Yasutomi, H; Kitamura, T; Matsuo, K; Shimizu, N; Inada, KI; Kodera, Y; Yamamura, Y; Narimatsu, H; Hamajima, N; Tatematsu, M
      Polymorphisms of two fucosyltransferase genes (Lewis and Secretor genes) involving type I Lewis antigens are associated with the presence of anti-Helicobacter pylori IgG antibody

      CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
    36. Lindgren, CM; Hirschhorn, JN
      The genetics of type 2 diabetes

      ENDOCRINOLOGIST
    37. Knollmann, BC; Potter, JD
      Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy

      TRENDS IN CARDIOVASCULAR MEDICINE
    38. Barendse, W; Armitage, SM
      The single strand conformational analysis of cattle and human single nucleotide polymorphisms may be biased towards specific sequence motifs that minimize local secondary structure of single strand dna

      ANIMAL BIOTECHNOLOGY
    39. Kubota, T; Horie, M; Takano, M; Yoshida, H; Takenaka, K; Watanabe, E; Tsuchiya, T; Otani, H; Sasayama, S
      Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias

      JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
    40. Gillam, MP; Kopp, P
      Genetic defects in thyroid hormone synthesis

      CURRENT OPINION IN PEDIATRICS
    41. Scheffer, H; Cobben, JM; Matthijs, G; Wirth, B
      Best practice guidelines for molecular analysis in spinal muscular atrophy

      EUROPEAN JOURNAL OF HUMAN GENETICS
    42. Legros, F; Chatzoglou, E; Frachon, P; de Baulny, HO; Laforet, P; Jardel, C; Godinot, C; Lombes, A
      Functional characterization of novel mutations in the human cytochrome b gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    43. Bruder, CEG; Hirvela, C; Tapia-Paez, I; Fransson, I; Segraves, R; Hamilton, G; Zhang, XX; Evans, DG; Wallace, AJ; Baser, ME; Zucman-Rossi, J; Hergersberg, M; Boltshauser, E; Papi, L; Rouleau, GA; Poptodorov, G; Jordanova, A; Rask-Andersen, H; Kluwe, L; Mautner, V; Sainio, M; Hung, G; Mathiesen, T; Moller, C; Pulst, SM; Harder, H; Heiberg, A; Honda, M; Miimura, M; Sahlen, S; Blennow, E; Albertson, DG; Pinkel, D; Dumanski, JP
      High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

      HUMAN MOLECULAR GENETICS
    44. De Jonghe, C; Esselens, C; Kumar-Singh, S; Craessaerts, K; Serneels, S; Checler, F; Annaert, W; Van Broeckhoven, C; De Strooper, B
      Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect A beta secretion and APP C-terminal fragment stability

      HUMAN MOLECULAR GENETICS
    45. Cagliani, R; Comi, GP; Tancredi, L; Sironi, M; Fortunato, F; Giorda, R; Bardoni, A; Moggio, M; Prelle, A; Bresolin, N; Scarlato, G
      Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

      NEUROMUSCULAR DISORDERS
    46. Ueyama, H; Kumamoto, T; Nagao, S; Masuda, T; Horinouchi, H; Fujimoto, S; Tsuda, T
      A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

      NEUROMUSCULAR DISORDERS
    47. Van Vlierberghe, H; Delanghe, JR; De Bie, S; Praet, M; De Paepe, A; Messiaen, L; De Vos, M; Leroux-Roels, G
      Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C

      EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
    48. Ryffel, GU
      Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences

      JOURNAL OF MOLECULAR ENDOCRINOLOGY
    49. Naka, M; Ozaki, T; Takada, N; Takahashi, M; Shishikura, T; Sakiyama, S; Tada, M; Todo, S; Nakagawara, A
      Functional characterization of naturally occurring mutants (P405R and P425L) of p73 alpha and p73 beta found in neuroblastoma and lung cancer

      ONCOGENE
    50. Evans, D; de Heer, J; Hagemann, C; Wendt, D; Wolf, A; Beisiegel, U; Mann, WA
      Association between the P12A and cl431t polymorphisms in the peroxisome proliferator activated receptor gamma (PPAR gamma) gene and type 2 diabetes

      EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
    51. Chuang, LM; Hsiung, CA; Chen, YDI; Ho, LT; Sheu, WHH; Pei, D; Nakatsuka, CH; Cox, D; Pratt, RE; Lei, HH; Tai, TY
      Sibling-based association study of the PPAR gamma(2) Pro12Ala polymorphismand metabolic variables in Chinese and Japanese hypertension families: a SAPPHIRe study

      JOURNAL OF MOLECULAR MEDICINE-JMM
    52. Strazzullo, P; Iacone, R; Siani, A; Barba, G; Russo, O; Russo, P; Barbato, A; D'Elia, L; Farinaro, E; Cappuccio, FP
      Altered renal sodium handling and hypertension in men carrying the glucagon receptor gene (Gly40Ser) variant

      JOURNAL OF MOLECULAR MEDICINE-JMM
    53. Ryoo, YW; Kim, BC; Lee, KS
      Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

      JOURNAL OF DERMATOLOGICAL SCIENCE
    54. Murakami, T; Iwatsuki, K; Hayashi, T; Sato, K; Matsubara, E; Nagano, I; Manabe, Y; Shoji, M; Abe, K
      Two Japanese CADASIL families with a R141C mutation in the Notch3 gene

      INTERNAL MEDICINE
    55. Tomita, N; Moriguchi, A; Yamasaki, K; Taniyama, Y; Kotani, N; Hashiya, N; Yoshida, M; Yao, M; Higaki, J; Ogihara, T
      A family with Von Hippel-Lindau disease revealed by pheochromocytoma

      Hypertension research
    56. Moriwaki, S; Kraemer, KH
      Xeroderma pigmentosum - bridging a gap between clinic and laboratory

      PHOTODERMATOLOGY PHOTOIMMUNOLOGY & PHOTOMEDICINE
    57. Anwar, R; Gallivan, L; Trinh, CH; Hill, FGH; Markham, AF
      Identification of a new Leu354Pro mutation responsible for factor XIII deficiency

      EUROPEAN JOURNAL OF HAEMATOLOGY
    58. Kamynina, E; Debonneville, C; Bens, M; Vandewalle, A; Staub, O
      A novel mouse Nedd4 protein suppresses the activity of the epithelial Na+ channel

      FASEB JOURNAL
    59. Hedera, P
      Ethical principles and pitfalls of genetic testing for dementia

      JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY
    60. Pang, SY
      Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency

      ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
    61. Eeckhoute, J; Formstecher, P; Laine, B
      Maturity-onset diabetes of the young type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4 alpha (HNF4 alpha) gene impair recruitment of p300, a key transcriptional coactivator

      MOLECULAR ENDOCRINOLOGY
    62. Fossey, SC; Mychaleckyj, JC; Pendleton, JK; Snyder, JR; Bensen, JT; Hirakawa, S; Rich, SS; Freedman, BI; Bowden, DW
      A high-resolution 6.0-megabase transcript map of the type 2 diabetes susceptibility region on human chromosome 20

      GENOMICS
    63. Sidjanin, DJ; Parker-Wilson, DM; Neuhauser-Klaus, A; Pretsch, W; Favor, J; Deen, PMT; Ohtaka-Maruyama, C; Lu, Y; Bragin, A; Skach, WR; Chepelinsky, AB; Grimes, PA; Stambolian, DE
      A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfimice

      GENOMICS
    64. Fluck, CE; Deladoey, J; Nayak, S; Zeller, O; Kopp, P; Mullis, PE
      Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59 Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    65. Swarbrick, MM; Chapman, CML; McQuillan, BM; Hung, J; Thompson, PL; Beilby, JP
      A Pro12Ala polymorphism in the human peroxisome proliferator-activated receptor-gamma 2 is associated with combined hyperlipidaemia in obesity

      EUROPEAN JOURNAL OF ENDOCRINOLOGY
    66. Fietta, P; Manganelli, P
      Coexistent Marfan's syndrome and ankylosing spondylitis: A case report

      CLINICAL RHEUMATOLOGY
    67. Essenfelder, GM; Lamartine, J; Waksman, G
      Connexins and hereditary human diseases

      M S-MEDECINE SCIENCES
    68. Kousta, E; Ellard, S; Allen, LIS; Saker, PJ; Huxtable, SJ; Hattersley, AT; McCarthy, MI
      Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes

      DIABETIC MEDICINE
    69. Chen, JM; Cutler, C; Jacques, C; Boeuf, G; Denamur, E; Lecointre, G; Mercier, B; Cramb, G; Ferec, C
      A combined analysis of the cystic fibrosis transmembrane conductance regulator: Implications for structure and disease models

      MOLECULAR BIOLOGY AND EVOLUTION
    70. Erdmann, J; Raible, J; Maki-Abadi, J; Hummel, M; Hammann, J; Wollnik, B; Frantz, E; Fleck, E; Hetzer, R; Regitz-Zagrosek, V
      Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy

      JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
    71. Martin, MA; Rubio, JC; Buchbinder, J; Fernandez-Hojas, R; del Hoyo, P; Teijeira, S; Gamez, J; Navarro, C; Fernandez, JM; Cabello, A; Campos, Y; Cervera, C; Culebras, JM; Andreu, AL; Fletterick, R; Arenas, J
      Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study

      ANNALS OF NEUROLOGY
    72. Li, M; Dalakas, MC
      Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations

      ANNALS OF NEUROLOGY
    73. Kamynina, E; Tauxe, C; Staub, O
      Distinct characteristics of two human Nedd4 proteins with respect to epithelial Na+ channel regulation

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    74. Carrera, P; Stenirri, S; Ferrari, M; Battistini, S
      Familial hemiplegic migraine: A ion channel disorder

      BRAIN RESEARCH BULLETIN
    75. Pasalic, D; Sertic, J; Kunovic, B; Milicevic, Z; Pasic, A; Zrinski-Topic, R; Ferencak, G; Stavljenic-Rukavina, A
      Lipoprotein lipase gene polymorphism and lipid profile in patients with hypertriglyceridemia

      CROATIAN MEDICAL JOURNAL
    76. Janecke, AR; Nekahm, D; Loffler, J; Hirst-Stadlmann, A; Muller, T; Utermann, G
      De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

      HUMAN GENETICS
    77. Kurokawa, Y; Ishida, F; Kamijo, T; Kunishima, S; Kenny, D; Kitano, K; Koike, K
      A missense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ib beta gene affects GPIb/IX complex expression - Bernard-Soulier syndrome in the homozygous form and giant platelets in the heterozygous form

      THROMBOSIS AND HAEMOSTASIS
    78. Larose, M; Bouchard, C; Chagnon, YC
      A new gene related to human obesity identified by suppression subtractive hybridization

      INTERNATIONAL JOURNAL OF OBESITY
    79. Edvardsson, V; Palsson, R; Olafsson, I; Hjaltadottir, G; Laxdal, T
      Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland

      AMERICAN JOURNAL OF KIDNEY DISEASES
    80. Yamashita, Y; Koga, M; Takeda, Y; Enomoto, N; Uchida, S; Hashimoto, K; Yamano, S; Dohi, K; Marumo, F; Sasaki, S
      Two sporadic cases of Liddle's syndrome caused by de novo ENaC mutations

      AMERICAN JOURNAL OF KIDNEY DISEASES
    81. Meneton, P; Warnock, DG
      Involvement of renal apical Na transport systems in the control of blood pressure

      AMERICAN JOURNAL OF KIDNEY DISEASES
    82. Meneton, P; Oh, YS; Warnock, DG
      Genetic renal tubular disorders of renal ion channels and transporters

      SEMINARS IN NEPHROLOGY
    83. Watanabe, H; Kragh-Hansen, U; Tanase, S; Nakajou, K; Mitarai, M; Iwao, Y; Maruyama, T; Otagiri, M
      Conformational stability and warfarin-binding properties of human serum albumin studied by recombinant mutants

      BIOCHEMICAL JOURNAL
    84. Richards, KA; Fukai, K; Oiso, N; Paller, AS
      A novel KIT mutation results in piebaldism with progressive depigmentation

      JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
    85. Slavotinek, AM; Biesecker, LG
      Unfolding the role of chaperones and chaperonins in human disease

      TRENDS IN GENETICS
    86. Fujino, N; Shimizu, M; Ino, H; Okeie, K; Yamaguchi, M; Yasuda, T; Kokado, H; Mabuchi, H
      Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy

      CLINICAL CARDIOLOGY
    87. Yoshida, H; Horie, M; Otani, H; Kawashima, T; Onishi, Y; Sasayama, S
      Bradycardia-induced long QT syndrome caused by a de novo missense mutationin the S2-S3 inner loop of HERG

      AMERICAN JOURNAL OF MEDICAL GENETICS
    88. de la Chesnaye, E; Canto, P; Ulloa-Aguirre, A; Mendez, JP
      No evidence of mutations in the follicle-stimulating hormone receptor genein Mexican women with 46,XX pure gonadal dysgenesis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    89. Dimauro, S; Schon, EA
      Mitochondrial DNA mutations in human disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    90. Moog, U; Jansen, NJG; Scherer, G; Schrander-Stumpel, CTRM
      Acampomelic Campomelic syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    91. Shanske, A; Ferreira, JC; Leonard, JC; Fuller, P; Marion, RW
      Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

      AMERICAN JOURNAL OF MEDICAL GENETICS
    92. Guo, D; Tan, FK; Cantu, A; Plon, SE; Milewicz, DM
      FBN1 exon 2 splicing error in a patient with Marfan syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    93. Fillat, C; Espanol, T; Oset, M; Ferrando, M; Estivill, X; Volpini, V
      Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    94. Ahmad, W; Noci, S; Haque, MFU; Sarno, T; Aridon, P; Ahmad, MM; Amin-ud-din, M; Rafiq, MA; Haque, SU; De Fusco, M; Ballabio, A; Franco, B; Casari, G
      Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Carter, RF
      BRCA1, BRCA2 and breast cancer: a concise clinical review

      CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE
    96. Graw, J; Loster, J; Soewarto, D; Fuchs, H; Meyer, B; Reis, A; Wolf, E; Balling, R; de Angelis, MH
      Characterization of a new, dominant V124E mutation in the mouse alpha A-crystallin-encoding gene

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    97. Brady, JP; Garland, DL; Green, DE; Tamm, ER; Giblin, FJ; Wawrousek, EF
      alpha B-crystallin in lens development and muscle integrity: A gene knockout approach

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    98. Innocenti, F; Iyer, L; Ratain, MJ
      Pharmacogenetics of anticancer agents: Lessons from amonafide and irinotecan

      DRUG METABOLISM AND DISPOSITION
    99. Kamynina, E; Debonneville, C; Hirt, RP; Staub, O
      Liddle's syndrome: A novel mouse Nedd4 isoform regulates the activity of the epithelial Na+ channel

      KIDNEY INTERNATIONAL
    100. Eng, CM; Desnick, RJ
      Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases

      TAY-SACHS DISEASE


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Documento generato il 01/06/20 alle ore 16:02:48