Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'XQ28' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 212 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Conrad, P; Markens, S
      Constructing the 'gay gene' in the news: optimism and skepticism in the USand British press

      HEALTH
    2. Heiss, NS; Megarbane, A; Klauck, SM; Kreuz, FR; Makhoul, E; Majewski, F; Poustka, A
      One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC)

      GENETIC COUNSELING
    3. Aradhya, S; Bardaro, T; Galgoczy, P; Yamagata, T; Esposito, T; Patlan, H; Ciccodicola, A; Munnich, A; Kenwrick, S; Platzer, M; D'Urso, M; Nelson, DL
      Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

      HUMAN MOLECULAR GENETICS
    4. Tachi, N; Kozuka, N; Chiba, S; Miyaji, M; Watanabe, I
      A double mutation in a patient with X-linked myotubular myopathy

      PEDIATRIC NEUROLOGY
    5. Galgoczy, P; Rosenthal, A; Platzer, M
      Human-mouse comparative sequence analysis of the NEMO gene reveals an alternative promoter within the neighboring G6PD gene

      GENE
    6. Cecil, KM; Salomons, GS; Ball, WS; Wong, B; Chuck, G; Verhoeven, NM; Jakobs, C; DeGrauw, TJ
      Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

      ANNALS OF NEUROLOGY
    7. Hayashi, T; Yamaguchi, T; Kitahara, K; Sharpe, LT; Jagle, H; Yamade, S; Ueyama, H; Motulsky, AG; Deeb, SS
      The importance of gene order in expression of the red and green visual pigment genes and in color vision

      COLOR RESEARCH AND APPLICATION
    8. Forrester, S; Kovach, MJ; Reynolds, NM; Urban, R; Kimonis, V
      Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Priolo, M; De Toni, T; Baffico, M; Cama, A; Seri, M; Cusano, R; Costabello, L; Fondelli, P; Capra, V; Silengo, M; Ravazzolo, R; Lerone, M
      Fontaine-Farriaux craniosynostosis: Second report in the literature

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Villard, L; Levy, N; Xiang, FQ; Kpebe, A; Labelle, V; Chevillard, C; Zhang, ZP; Schwartz, CE; Tardieu, M; Chelly, J; Anvret, M; Fontes, M
      Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease

      JOURNAL OF MEDICAL GENETICS
    11. Salomons, GS; van Dooren, SJM; Verhoeven, NM; Cecil, KM; Ball, WS; Degrauw, TJ; Jakobs, C
      X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Shastry, BS
      Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

      JOURNAL OF HUMAN GENETICS
    13. Mallon, AM; Platzer, M; Bate, R; Gloeckner, G; Botcherby, MRM; Nordsiek, G; Strivens, MA; Kioschis, P; Dangel, A; Cunningham, D; Straw, RNA; Weston, P; Gilbert, M; Fernando, S; Goodall, K; Hunter, G; Greystrong, JS; Clarke, D; Kimberley, C; Goerdes, M; Blechschmidt, K; Rump, A; Hinzmann, B; Mundy, CR; Miller, W; Poustka, A; Herman, GE; Rhodes, M; Denny, P; Rosenthal, A; Brown, SDM
      Comparative genome sequence analysis of the Bpa/Str region in mouse and man

      GENOME RESEARCH
    14. Laporte, J; Biancalana, V; Tanner, SM; Kress, W; Schneider, V; Wallgren-Pettersson, C; Herger, F; Buj-Bello, A; Blondeau, F; Liechti-Gallati, S; Mandel, JL
      MTM1 mutations in X-linked myotubular myopathy

      HUMAN MUTATION
    15. Leonard, H; Fyfe, S; Dye, D; Hockey, A; Christodoulou, J
      Family data in Rett syndrome: Association with other genetic disorders

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    16. Demeter, K
      Assessing the developmental level in Rett syndrome: an alternative approach?

      EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    17. Woffendin, H; Esposito, T; Jakins, T; Bardaro, T; Stern, MH; Kenwrick, S
      Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Raynaud, M; Moizard, MP; Dessay, B; Briault, S; Toutain, A; Gendrot, C; Ronce, N; Moraine, C
      Systematic analysis of X-inactivation in 19XLMR families: extremely skewedprofiles in carriers in three families

      EUROPEAN JOURNAL OF HUMAN GENETICS
    19. Carrel, T; Purandare, SM; Harrison, W; Elder, F; Fox, T; Casey, B; Herman, GE
      The X-linked mouse mutation Bent tail is associated with a deletion of theZic3 locus

      HUMAN MOLECULAR GENETICS
    20. Reichwald, K; Thiesen, J; Wiehe, T; Weitzel, J; Stratling, WH; Kioschis, P; Poustka, A; Rosenthal, A; Platzer, M
      Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

      MAMMALIAN GENOME
    21. Moretti, S; Spallanzani, A; Chiarugi, A; Muscarella, G; Battini, ML
      Oral carcinoma in a young man: a case of dyskeratosis congenita

      JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
    22. Sugai, N; Sawazaki, T; Itoh, T; Mikawa, S; Wada, Y; Yasue, H
      Physical assignment of markers, SJ017, SJ042, and SJ065 to swine chromosome X

      ANIMAL GENETICS
    23. Chen, CP; Devriendt, K; Chern, SR; Lee, CC; Wang, WS; Lin, SP
      Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

      PRENATAL DIAGNOSIS
    24. Savarirayan, R; Cormier-Daire, V; Unger, S; Lachman, RS; Roughley, PJ; Wagner, SF; Rimoin, DL; Wilcox, WR
      Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Briault, S; Villard, L; Rogner, U; Coy, J; Odent, S; Lucas, J; Passage, E; Zhu, DP; Shrimpton, A; Pembrey, M; Till, M; Guichet, A; Dessay, S; Fontes, M; Poustka, A; Moraine, C
      Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Russo, S; Cogliati, F; Cavalleri, F; Cassitto, MG; Giglioli, R; Toniolo, D; Casari, G; Larizza, L
      Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Aradhya, S; Ahobila, P; Lewis, RA; Nelson, DL; Esposito, T; Ciccodicola, A; Bardaro, T; D'Urso, M; Woffendin, H; Kenwrick, S; Smahi, A; Heuertz, S; Munnich, A; Heiss, NS; Poustka, A; Chishti, AH
      Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Aradhya, S; Nelson, DL; Heiss, NS; Poustka, A; Woffendin, H; Kenwrick, S; Esposito, T; Ciccodicola, A; Bardaro, T; D'Urso, M; Smahi, A; Munnich, A; Herman, GE; Lewis, RA
      Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Konig, A; Happle, R; Bornholdt, D; Engel, H; Grzeschik, KH
      Mutations in the NSDHL gene, encoding a 3 beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Pulst, SM
      Ethical issues in DNA testing

      MUSCLE & NERVE
    31. Deeb, SS; Hayashi, T; Winderickx, J; Yamaguchi, T
      Molecular analysis of human red/green visual pigment gene locus: Relationship to color vision

      VERTEBRATE PHOTOTRANSDUCTION AND THE VISUAL CYCLE, PT B
    32. Guiraud-Chaumeil, C; Laporte, J; Mandel, JL; Warter, JM
      Myotubular myopathy.

      REVUE NEUROLOGIQUE
    33. Emmerich, S; Murday, V; Landy, S; Dean, J; Hors-Cayla, MC; Dahl, N; Gonzales, M
      Genomic rearrangement in NEMO impairs NF-kappa B activation and is a causeof incontinentia pigmenti

      NATURE
    34. Ishizaki, H; Miyoshi, J; Kamiya, H; Togawa, A; Tanaka, M; Sasaki, T; Endo, K; Mizoguchi, A; Ozawa, S; Takai, Y
      Role of Rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampal neurotransmission

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    35. Rost, I; Duroux, A; Toniolo, D; Holinski-Feder, E; Kozlik-Feldmann, R
      Barth syndrome: X-linked dilated cardiomyopathy

      MONATSSCHRIFT KINDERHEILKUNDE
    36. Green, R; Keverne, EB
      The disparate maternal aunt-uncle ratio in male transsexuals: an explanation invoking genomic imprinting

      JOURNAL OF THEORETICAL BIOLOGY
    37. Hampson, K; Woods, CG; Latif, F; Webb, T
      Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

      JOURNAL OF MEDICAL GENETICS
    38. Xiang, FQ; Buervenich, S; Nicolao, P; Bailey, MES; Zhang, ZP; Anvret, M
      Mutation screening in Rett syndrome patients

      JOURNAL OF MEDICAL GENETICS
    39. Los, M; Neubuser, D; Coy, JF; Mozoluk, M; Poustka, A; Schulze-Osthoff, K
      Functional characterization of DNase X, a novel endonuclease expressed in muscle cells

      BIOCHEMISTRY
    40. Kendler, KS; Thornton, LM; Gilman, SE; Kessler, RC
      Sexual orientation in a US national sample of twin and nontwin sibling pairs

      AMERICAN JOURNAL OF PSYCHIATRY
    41. Eichler, EE; Archidiacono, N; Rocchi, M
      CAGGG repeats and the pericentromeric duplication of the hominoid genome

      GENOME RESEARCH
    42. Dokal, I
      Dyskeratosis congenita: Recent advances and future directions

      JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
    43. Liu, XY; Dangel, AW; Kelley, RI; Zhao, W; Denny, P; Botcherby, M; Cattanach, B; Peters, J; Hunsicker, PR; Mallon, AM; Strivens, MA; Bate, R; Miller, W; Rhodes, M; Brown, SDM; Herman, GE
      The gene mutated in bare patches and striated mice encodes a novel 3 beta-hydroxysteroid dehydrogenase

      NATURE GENETICS
    44. Hayashi, T; Motulsky, AG; Deeb, SS
      Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype

      NATURE GENETICS
    45. Buj-Bello, A; Biancalana, V; Moutou, C; Laporte, J; Mandel, JL
      Identification of novel mutations in the MTM1 gene causing severe and mildforms of X-linked myotubular myopathy

      HUMAN MUTATION
    46. Jin, DY; Jeang, KT
      Isolation of full-length cDNA and chromosomal localization of human NF-kappa B modulator NEMO to Xq28

      JOURNAL OF BIOMEDICAL SCIENCE
    47. Slaney, SF; Chong, WK; Winter, RM
      A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia

      CLINICAL DYSMORPHOLOGY
    48. Yates, JRW; Bagshaw, J; Aksmanovic, VMA; Coomber, E; McMahon, R; Whittaker, JL; Morrison, PJ; Kendrick-Jones, J; Ellis, JA
      Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype

      NEUROMUSCULAR DISORDERS
    49. Tanner, SM; Schneider, V; Thomas, NST; Clarke, A; Lazarou, L; Liechti-Gallati, S
      Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

      NEUROMUSCULAR DISORDERS
    50. Gubitz, AK; Reppert, SM
      Assignment of the melatonin-related receptor to human chromosome X (GPR50)and mouse chromosome X (Gpr50)

      GENOMICS
    51. Russek, SJ
      Evolution of GABA(A) receptor diversity in the human genome

      GENE
    52. Yakovlev, AG; Wang, GP; Stoica, BA; Simbulan-Rosenthal, CM; Yoshihara, K; Smulson, ME
      Role of DNAS1L3 in Ca2+- and Mg2+-dependent cleavage of DNA into oligonucleosomal and high molecular mass fragments

      NUCLEIC ACIDS RESEARCH
    53. Zacharias, AS; Wagener, ME; Warren, ST; Hopkins, LC
      Emery-Dreifuss muscular dystrophy

      SEMINARS IN NEUROLOGY
    54. Armfield, K; Nelson, R; Lubs, HA; Hane, B; Schroer, RJ; Arena, F; Schwartz, CE; Stevenson, RE
      X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28

      AMERICAN JOURNAL OF MEDICAL GENETICS
    55. des Portes, V; Beldjord, C; Chelly, J; Hamel, B; Kremer, H; Smits, A; van Bokhoven, H; Ropers, HH; Claes, S; Fryns, JP; Ronce, N; Gendrot, C; Toutain, A; Raynaud, M; Moraine, C
      X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium

      AMERICAN JOURNAL OF MEDICAL GENETICS
    56. Hane, B; Stevenson, RE; Arena, JF; Lubs, HA; Simensen, RJ; Schwartz, CE
      Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22

      AMERICAN JOURNAL OF MEDICAL GENETICS
    57. Gendrot, C; Ronce, N; Raynaud, M; Ayrault, AD; Dourlens, J; Castelnau, P; Muh, JP; Chelly, J; Moraine, C
      X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    58. Barth, PG; Wanders, RJA; Vreken, P; Janssen, EAM; Lam, J; Baas, F
      X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)

      JOURNAL OF INHERITED METABOLIC DISEASE
    59. Gardiner, K
      Saturation identification of coding sequences in genomic DNA

      CDNA PREPARATION AND CHARACTERIZATION
    60. Zhang, T; Xiong, H; Kan, LX; Zhang, CK; Jiao, XF; Fu, G; Zhang, QH; Lu, L; Tong, JH; Gu, BW; Yu, M; Liu, JX; Licht, J; Waxman, S; Zelent, A; Chen, E; Chen, SJ
      Genomic sequence, structural organization, molecular evolution, and aberrant rearrangement of promyelocytic leukemia zinc finger gene

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    61. Barth, PG; Wanders, RJA; Vreken, P
      X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) - MIM 302060

      JOURNAL OF PEDIATRICS
    62. Cantlay, AM; Shokrollahi, K; Allen, JT; Lunt, PW; Newbury-Ecob, RA; Steward, CG
      Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

      JOURNAL OF PEDIATRICS
    63. Woffendin, H; Jakins, T; Jouet, M; Stewart, H; Landy, S; Haan, E; Harris, A; Donnai, D; Read, A; Kenwrick, S
      X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation

      CLINICAL GENETICS
    64. Dokal, I
      Dyskeratosis congenita

      BRITISH JOURNAL OF HAEMATOLOGY
    65. Bailey, JM; Pillard, RC; Dawood, K; Miller, MB; Farrer, LA; Trivedi, S; Murphy, RL
      A family history study of male sexual orientation using three independent samples

      BEHAVIOR GENETICS
    66. SHIOKAWA D; HIRAI M; TANUMA S
      CDNA CLONING OF HUMAN DNASE-GAMMA - CHROMOSOMAL LOCALIZATION OF ITS GENE AND ENZYMATIC-PROPERTIES OF RECOMBINANT PROTEIN

      Apoptosis
    67. DADAMO P; MENEGON A; LONIGRO C; GRASSO M; GULISANO M; TAMANINI F; BIENVENU T; GEDEON AK; OOSTRA B; WU SK; TANDON A; VALTORTA F; BALCH WE; CHELLY J; TONIOLO D
      MUTATIONS IN GDI1 ARE RESPONSIBLE FOR X-LINKED NONSPECIFIC MENTAL-RETARDATION

      Nature genetics
    68. LUZZATTO L; KARADIMITRIS A
      DYSKERATOSIS AND RIBOSOMAL REBELLION

      Nature genetics
    69. HEISS NS; KNIGHT SW; VULLIAMY TJ; KLAUCK SM; WIEMANN S; MASON PJ; POUSTKA A; DOKAL I
      X-LINKED DYSKERATOSIS-CONGENITA IS CAUSED BY MUTATIONS IN A HIGHLY CONSERVED GENE WITH PUTATIVE NUCLEOLAR FUNCTIONS

      Nature genetics
    70. TANNER SM; LAPORTE J; GUIRAUDCHAUMEIL C; LIECHTIGALLATI S
      CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE

      Human mutation
    71. TANNER SM; LAPORTE J; GUIRAUDCHAUMEIL C; LIECHTIGALLATI S
      CONFIRMATION OF PRENATAL-DIAGNOSIS RESULTS OF X-LINKED RECESSIVE MYOTUBULAR MYOPATHY BY MUTATIONAL SCREENING, AND DESCRIPTION OF 3 NEW MUTATIONS IN THE MTM1 GENE

      Human mutation
    72. LAPORTE J; GUIRAUDCHAUMEIL C; TANNER SM; BLONDEAU F; HU LJ; VICAIRE S; LIECHTIGALLATI S; MANDEL JL
      GENOMIC ORGANIZATION OF THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY

      European journal of human genetics
    73. PAN CQ; ULMER JS; HERZKA A; LAZARUS RA
      MUTATIONAL ANALYSIS OF HUMAN DNASE-I AT THE DNA-BINDING INTERFACE - IMPLICATIONS FOR DNA RECOGNITION, CATALYSIS, AND METAL-ION DEPENDENCE

      Protein science
    74. SEDLACEK Z; MUNSTERMANN E; MINCHEVA A; LICHTER P; POUSTKA A
      THE HUMAN RAB GDI BETA-GENE WITH LONG RETROPOSON-RICH INTRONS MAPS TO10P15 AND ITS PSEUDOGENE TO 7P11-P13

      Mammalian genome
    75. Fox, JW; Lamperti, ED; Eksioglu, YZ; Hong, SE; Feng, YY; Graham, DA; Scheffer, IE; Dobyns, WB; Hirsch, BA; Radtke, RA; Berkovic, SF; Huttenlocher, PR; Walsh, CA
      Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia

      NEURON
    76. Kioschis, P; Wiemann, S; Heiss, NS; Francis, F; Gotz, C; Poustka, A; Taudien, S; Platzer, M; Wiehe, T; Beckmann, G; Weber, J; Nordsiek, G; Rosenthal, A
      Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)

      GENOMICS
    77. BIENVENU T; DESPORTES V; BELDJORD C; CHELLY J
      OLIGOPHRENIN-2 A RAB-GDI PROTEIN INVOLVED IN A X-LINKED NONSPECIFIC MENTAL-RETARDATION

      MS. Medecine sciences
    78. GROOT PC; VANOOST BA
      IDENTIFICATION OF FRAGMENTS OF HUMAN TRANSCRIPTS FROM A DEFINED CHROMOSOMAL REGION - REPRESENTATIONAL DIFFERENCE ANALYSIS OF SOMATIC-CELL HYBRIDS

      Nucleic acids research
    79. SHIOKAWA D; TANUMA S
      CLONING AND EXPRESSION OF A CDNA-ENCODING AN APOPTOTIC ENDONUCLEASE DNASE-GAMMA

      Biochemical journal
    80. DU YZ; DICKERSON C; AYLSWORTH AS; SCHWARTZ CE
      A SILENT MUTATION, C924T (G308G), IN THE L1CAM GENE RESULTS IN X-LINKED HYDROCEPHALUS (HSAS)

      Journal of Medical Genetics
    81. VINCENT MC; GUIRAUDCHAUMEIL C; LAPORTE J; MANOUVRIERHANU S; MANDEL JL
      EXTENSIVE GERMINAL MOSAICISM IN A FAMILY WITH X-LINKED MYOTUBULAR MYOPATHY SIMULATES GENETIC-HETEROGENEITY

      Journal of Medical Genetics
    82. KNIGHT SW; VULLIAMY TJ; HEISS NS; MATTHIJS G; DEVRIENDT K; CONNOR JM; DURSO M; POUSTKA A; MASON PJ; DOKAL I
      1.4 MB CANDIDATE GENE REGION FOR X-LINKED DYSKERATOSIS-CONGENITA DEFINED BY COMBINED HAPLOTYPE AND X-CHROMOSOME INACTIVATION ANALYSIS

      Journal of Medical Genetics
    83. WEBB T; CLARKE A; HANEFELD F; PEREIRA JL; ROSENBLOOM L; WOODS CG
      LINKAGE ANALYSIS IN RETT-SYNDROME FAMILIES SUGGESTS THAT THERE MAY BEA CRITICAL REGION AT XQ28

      Journal of Medical Genetics
    84. TSUCHIYA Y; ARAHATA K
      EMERY-DREIFUSS-SYNDROME

      Current opinion in neurology
    85. SMALL K; IBER J; WARREN ST
      EMERIN DELETION REVEALS A COMMON X-CHROMOSOME INVERSION MEDIATED BY INVERTED REPEATS

      Nature genetics
    86. NGUYENYUE YH; LOFTUS TM; TOROK T; BRYANT P; STANBRIDGE EJ
      THE ISOLATION, LOCALIZATION AND CHARACTERIZATION OF THE QM HOMOLOG INDROSOPHILA-MELANOGASTER

      DNA sequence
    87. JOUET M; STEWART H; LANDY S; YATES J; YONG SL; HARRIS A; GARRET C; HATCHEWELL E; READ A; DONNAI D; KENWRICK S
      LINKAGE ANALYSIS IN 16 FAMILIES WITH INCONTINENTIA PIGMENTI

      European journal of human genetics
    88. DEGOUYON BM; ZHAO W; LAPORTE J; MANDEL JL; METZENBERG A; HERMAN GE
      CHARACTERIZATION OF MUTATIONS IN THE MYOTUBULARIN GENE IN 26 PATIENTSWITH X-LINKED MYOTUBULAR MYOPATHY

      Human molecular genetics
    89. LAPORTE J; GUIRAUDCHAUMEIL C; VINCENT MC; MANDEL JL; TANNER SM; LIECHTIGALLATI S; WALLGRENPETTERSSON C; DAHL N; KRESS W; BOLHUIS PA; FARDEAU M; SAMSON F; BERTINI E
      MUTATIONS IN THE MTM1 GENE IMPLICATED IN X-LINKED MYOTUBULAR MYOPATHY

      Human molecular genetics
    90. KNOLL A; SCHUNKERT H; REICHWALD K; DANSER AHJ; BAUER D; PLATZER M; STEIN G; ROSENTHAL A
      HUMAN RENIN BINDING-PROTEIN - COMPLETE GENOMIC SEQUENCE AND ASSOCIATION OF AN INTRONIC T C POLYMORPHISM WITH THE PRORENIN LEVEL IN MALES/

      Human molecular genetics
    91. YAMAGUCHI T; MOTULSKY AG; DEEB SS
      VISUAL PIGMENT GENE STRUCTURE AND EXPRESSION IN HUMAN RETINAE

      Human molecular genetics
    92. NEUWALD AF
      BARTH SYNDROME MAY BE DUE TO AN ACYLTRANSFERASE DEFICIENCY

      Current biology
    93. SIMMLER MC; HEARD E; ROUGEULLE C; CRUAUD C; WEISSENBACH J; AVNER P
      LOCALIZATION AND EXPRESSION ANALYSIS OF A NOVEL CONSERVED BRAIN EXPRESSED TRANSCRIPT, BRX BRX, LYING WITHIN THE XIC/XIC CANDIDATE REGION/

      Mammalian genome
    94. FISHER SE; CICCODICOLA A; TANAKA K; CURCI A; DESICATO S; DURSO M; CRAIG IW
      SEQUENCE-BASED EXON PREDICTION AROUND THE SYNAPTOPHYSIN LOCUS REVEALSA GENE-RICH AREA CONTAINING NOVEL GENES IN HUMAN PROXIMAL XP

      Genomics
    95. MAZZARELLA R; PENGUE G; YOON JY; JONES J; SCHLESSINGER D
      DIFFERENTIAL EXPRESSION OF XAP5, A CANDIDATE DISEASE GENE

      Genomics
    96. HANNA MC; PLATTS JT; KIRKNESS EF
      IDENTIFICATION OF A GENE WITHIN THE TANDEM ARRAY OF RED AND GREEN COLOR PIGMENT GENES

      Genomics
    97. WILKE K; WIEMANN S; GAUL R; GONG WL; POUSTKA A
      ISOLATION OF HUMAN AND MOUSE HMG2A CDNAS - EVIDENCE FOR AN HMG2A-SPECIFIC 3'-UNTRANSLATED REGION

      Gene
    98. FRATTINI A; FARANDA S; BAGNASCO L; PATROSSO C; NULLI P; ZUCCHI I; VEZZONI P
      IDENTIFICATION OF A NEW MEMBER (ZNF183) OF THE RING FINGER GENE FAMILY IN XQ24-25

      Gene
    99. KOHNO K; OSHIRO T; KISHINE H; WADA M; TAKEDA H; IHARA N; IMAMOTO F; KANO Y; SCHLESSINGER D
      CONSTRUCTION AND CHARACTERIZATION OF A RAD51RAD52 DOUBLE MUTANT AS A HOST FOR YAC LIBRARIES

      Gene
    100. ICHIKAWA Y; WATANABE M; KOWA H; MURAYAMA S; MIZUNO T; KOMURO I; ISHIKI R; GOTO J; KANAZAWA I
      A JAPANESE FAMILY CARRYING A NOVEL MUTATION IN THE EMERY-DREIFUSS MUSCULAR-DYSTROPHY GENE

      Annals of neurology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/21 alle ore 05:49:43