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 'LINKED MENTAL-RETARDATION' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 200 riferimenti
Si mostrano 100 riferimenti a partire da 1
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    1. Mochida, GH; Walsh, CA
      Molecular genetics of human microcephaly

      CURRENT OPINION IN NEUROLOGY
    2. Chen, RZ; Akbarian, S; Tudor, M; Jaenisch, R
      Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

      NATURE GENETICS
    3. Santos, CB; Lima, MAC; Pimentel, MMG
      A new PCR assay useful for screening of FRAXE/FMR2 mental impairment amongmales

      HUMAN MUTATION
    4. Sabaratnam, M; Vroegop, PG; Gangadharan, SK
      Epilepsy and EEG findings in 18 males with fragile X syndrome

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    5. Girard, M; Couvert, P; Carrie, A; Tardieu, M; Chelly, J; Beldjord, C; Bienvenu, T
      Parental origin of de novo MECP2 mutations in Rett syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    6. Chiurazzi, P; Hamel, BCJ; Neri, G
      XLMR genes: update 2000

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Colantuoni, C; Jeon, OH; Hyder, K; Chenchik, A; Khimani, AH; Narayanan, V; Hoffman, EP; Kaufmann, WE; Naidu, S; Pevsner, J
      Gene expression profiling in postmortem Rett syndrome brain: Differential gene expression and patient classification

      NEUROBIOLOGY OF DISEASE
    8. Hendrich, B; Bickmore, W
      Human diseases with underlying defects in chromatin structure and modification

      HUMAN MOLECULAR GENETICS
    9. Sreekumar, KR; Aravind, L; Koonin, EV
      Computational analysis of human disease-associated genes and their proteinproducts

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    10. Kerr, AM
      Recent developments in Rett syndrome research

      CURRENT OPINION IN PSYCHIATRY
    11. Wade, PA
      Methyl CpG binding proteins: coupling chromatin architecture to gene regulation

      ONCOGENE
    12. Kaartinen, V; Gonzalez-Gomez, I; Voncken, JW; Haataja, L; Faure, E; Nagy, A; Groffen, J; Heisterkamp, N
      Abnormal function of astroglia lacking Abr and Bcr RacGAPs

      DEVELOPMENT
    13. Ferrante, MI; Ghiani, M; Bulfone, A; Franco, B
      IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervoussystem

      GENE
    14. Waters, JJ; Campbell, PL; Crocker, AJM; Campbell, CM
      Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories

      HUMAN GENETICS
    15. Horn, D; Delaunoy, JP; Kunze, J
      Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

      PRENATAL DIAGNOSIS
    16. Schwartzman, JS; Bernardino, A; Nishimura, A; Gomes, RR; Zatz, M
      Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene

      NEUROPEDIATRICS
    17. Vitale, E; Specchia, C; Devoto, M; Angius, A; Rong, S; Rocchi, M; Schwalb, M; Demelas, L; Paglietti, D; Manca, S; Mastropaolo, C; Serra, G
      Novel X-linked mental retardation syndrome with short stature maps to Xq24

      AMERICAN JOURNAL OF MEDICAL GENETICS
    18. Martinez, F; Martinez-Garay, I; Millan, JM; Perez-Aytes, A; Molto, MD; Orellana, C; Prieto, F
      Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. Stoll, C
      Problems in the diagnosis of fragile X syndrome in young children are still present

      AMERICAN JOURNAL OF MEDICAL GENETICS
    20. Billuart, P; Winter, CG; Maresh, A; Zhao, XS; Luo, LQ
      Regulating axon branch stability: The role of p190 RhoGAP in repressing a retraction signaling pathway

      CELL
    21. Singer, HS; Naidu, S
      Rett syndrome - "We'll keep the genes on for you"

      NEUROLOGY
    22. Auranen, M; Vanhala, R; Vosman, M; Levander, M; Varilo, T; Hietala, M; Riikonen, R; Peltonen, L; Jarvela, I
      MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features

      NEUROLOGY
    23. Hoffbuhr, K; Devaney, JM; LaFleur, B; Sirianni, N; Scacheri, C; Giron, J; Schuette, J; Innis, J; Marino, M; Philippart, M; Narayanan, V; Umansky, R; Kronn, D; Hoffman, EP; Naidu, S
      MeCP2 mutations in children with and without the phenotype of Rett syndrome

      NEUROLOGY
    24. Lazzaro, MA; Picketts, DJ
      Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf21

      JOURNAL OF NEUROCHEMISTRY
    25. Webb, T; Latif, F
      Rett syndrome and the MECP2 gene

      JOURNAL OF MEDICAL GENETICS
    26. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    27. Lebo, RV; Ikuta, T; Milunsky, JM; Milunsky, A
      Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

      CLINICAL GENETICS
    28. Van Buggenhout, GJCM; Trommelen, JCM; Brunner, HG; Hamel, BCJ; Fryns, JP
      The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)

      ANNALES DE GENETIQUE
    29. Trappe, R; Laccone, F; Cobilanschi, J; Meins, M; Huppke, P; Hanefeld, F; Engel, W
      MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

      AMERICAN JOURNAL OF HUMAN GENETICS
    30. Luo, LQ
      Rho GTPases in neuronal morphogenesis

      NATURE REVIEWS NEUROSCIENCE
    31. Gecz, J; Mulley, J
      Genes for cognitive function: Developments on the X

      GENOME RESEARCH
    32. 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
    33. Fisch, GS
      Psychological assessment in XLMR: A proposal for setting international standards

      GENETIC COUNSELING
    34. Prakash, SK; Paylor, R; Jenna, S; Lamarche-Vane, N; Armstrong, DL; Xu, BS; Mancini, MA; Zoghbi, HY
      Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

      HUMAN MOLECULAR GENETICS
    35. Hol, FA; Schepens, MT; van Beersum, SEC; Redolfi, E; Affer, M; Vezzoni, P; Hamel, BCJ; Karnes, PS; Mariman, ECM; Zucchi, I
      Identification and characterization of an Xq26-q27 duplication in a familywith spina bifida and panhypopituitarism suggests the involvement of two distinct genes

      GENOMICS
    36. Sana, TR; Debets, R; Timans, JC; Bazan, JF; Kastelein, RA
      Computational identification, cloning. and characterization of IL-1R9, a novel interleukin-1 receptor-like gene encoded over an unusually large interval of human chromosome Xq22.2-q22.3

      GENOMICS
    37. Rodrigues, NR; Theodosiou, AM; Nesbit, MA; Campbell, L; Tandle, AT; Saranath, D; Davies, KE
      Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus

      GENOMICS
    38. Scheer, MP; van der Maarel, S; Kubart, S; Schulz, A; Wirth, J; Schweiger, S; Ropers, HH; Nothwang, HG
      DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner

      GENOMICS
    39. Wilda, M; Bachner, D; Zechner, U; Kehrer-Sawatzki, H; Vogel, W; Hameister, H
      Do the constraints of human speciation cause expression of the same set ofgenes in brain, testis, and placenta?

      CYTOGENETICS AND CELL GENETICS
    40. Nakayama, AY; Harms, MB; Luo, LQ
      Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons

      JOURNAL OF NEUROSCIENCE
    41. Chen, CP; Devriendt, K; Chern, SR; Lee, CC; Wang, WS; Lin, SP
      Prenatal diagnosis of inherited satellited non-acrocentric chromosomes

      PRENATAL DIAGNOSIS
    42. Stevenson, RE
      Splitting and lumping in the nosology of XLMR

      AMERICAN JOURNAL OF MEDICAL GENETICS
    43. Toniolo, D
      In search of the MRX genes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    44. Fisch, GS
      Psychology genetics

      AMERICAN JOURNAL OF MEDICAL GENETICS
    45. Hamel, BCJ; Chiurazzi, P; Lubs, HA
      Syndromic XLMR genes (MRXS): Update 2000

      AMERICAN JOURNAL OF MEDICAL GENETICS
    46. Chelly, J
      MRX review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    47. Ramakers, GJA
      Rho proteins and the cellular mechanisms of mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    48. 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
    49. Stevenson, RE; Abidi, F; Schwartz, CE; Lubs, HA; Holmes, LB
      Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. Wada, T; Kubota, T; Fukushima, Y; Saitoh, S
      Molecular genetic study of Japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    51. Caspari, R; Uhlhaas, S; Friedl, W; Knapp, M; Propping, P
      Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26

      AMERICAN JOURNAL OF MEDICAL GENETICS
    52. Bienvenu, T; des Portes, V; McDonell, N; Carrie, A; Zemni, R; Couvert, P; Ropers, HH; Moraine, C; van Bokhoven, H; Fryns, JP; Allen, K; Walsh, CA; Boue, J; Kahn, A; Chelly, J; Beldjord, C
      Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    53. Partington, M; Mowat, D; Einfeld, S; Tonge, B; Turner, G
      Genes on the X chromosome are important in undiagnosed mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    54. Villard, L; Fontes, M; Ades, LC; Gecz, J
      Identification of a mutation in the XNP/ATR-X gene in a family reported asSmith-Fineman-Myers syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    55. Sjarif, DR; van Amstel, JKP; Duran, M; Beemer, FA; Poll-The, BT
      Isolated and contiguous glycerol kinase gene disorders: A review

      JOURNAL OF INHERITED METABOLIC DISEASE
    56. Lee, YCG; Wilson, CJ; Winship, IM; Veale, AG
      Marfanoid habitus, dysmorphic features, and web neck

      SOUTHERN MEDICAL JOURNAL
    57. Landrieu, P
      Progress in pediatric neurology.

      REVUE NEUROLOGIQUE
    58. Cabezas, DA; Slaugh, R; Abidi, F; Arena, JF; Stevenson, RE; Schwartz, CE; Lubs, HA
      A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

      JOURNAL OF MEDICAL GENETICS
    59. Gohlke, BC; Haug, K; Fukami, M; Friedl, W; Noeker, M; Rappold, GA; Haverkamp, F
      Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

      JOURNAL OF MEDICAL GENETICS
    60. Bugge, M; Bruun-Petersen, G; Brondum-Nielsen, K; Friedrich, U; Hansen, J; Jensen, G; Jensen, PKA; Kristofferson, U; Lundsteen, C; Niebuhr, E; Rasmussen, KR; Rasmussen, K; Tommerup, N
      Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

      JOURNAL OF MEDICAL GENETICS
    61. Orrico, A; Lam, CW; Galli, L; Dotti, MT; Hayek, G; Tong, SF; Poon, PMK; Zappella, M; Federico, A; Sorrentino, V
      MECP2 mutation in male patients with non-specific X-linked mental retardation

      FEBS LETTERS
    62. Cao, Y; Murphy, KJ; McIntyre, TM; Zimmerman, GA; Prescott, SM
      Expression of fatty acid-CoA ligase 4 during development and in brain

      FEBS LETTERS
    63. Muir, WJ
      Genetics advances and learning disability

      BRITISH JOURNAL OF PSYCHIATRY
    64. Billuart, P; Chelly, J; Carrie, A; Vinet, MC; Couvert, P; McDonell, N; Zemni, R; Kahn, A; Moraine, C; Beldjord, C; Bienvenu, T
      Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation

      ANNALES DE GENETIQUE
    65. Steingruber, HE; Dunham, A; Coffey, AJ; Clegg, SM; Howell, GR; Maslen, GL; Scott, CE; Gwilliam, R; Hunt, PJ; Sotheran, EC; Huckle, EJ; Hunt, SE; Dhami, P; Soderlund, C; Leversha, MA; Bentley, DR; Ross, MT
      High-resolution landmark framework for the sequence-ready mapping of Xq23-q26.1

      GENOME RESEARCH
    66. Ahmad, W; De Fusco, M; ul Haque, MF; Aridon, P; Sarno, T; Sohail, M; ul Haque, S; Ahmad, M; Ballabio, A; Franco, B; Casari, G
      Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity

      EUROPEAN JOURNAL OF HUMAN GENETICS
    67. Gecz, J; Mulley, JC
      Characterisation and expression of a large, 13.7 kb FMR2 isoform.

      EUROPEAN JOURNAL OF HUMAN GENETICS
    68. Buchner, G; Montini, E; Andolfi, G; Quaderi, N; Cainarca, S; Messali, S; Bassi, MT; Ballabio, A; Meroni, G; Franco, B
      MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development

      HUMAN MOLECULAR GENETICS
    69. Sossey-Alaoui, K; Lyon, JA; Jones, L; Abidi, FE; Hartung, AJ; Hane, B; Schwartz, CE; Stevenson, RE; Srivastava, AK
      Molecular cloning and characterization of TRPC5 (HTRP5), the human homologue of a mouse brain receptor-activated capacitative Ca2+ entry channel

      GENOMICS
    70. Srivastava, AK; McMillan, S; Jermak, C; Shomaker, M; Copeland-Yates, SA; Sossey-Alaoui, K; Mumm, S; Schlessinger, D; Nagaraja, R
      Integrated STS YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059)

      GENOMICS
    71. Schanen, NC
      Molecular approaches to the Rett syndrome gene

      JOURNAL OF CHILD NEUROLOGY
    72. Villard, L; Belougne, J; Lossi, AM; Fontes, M; Colleaux, L
      Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene

      GENE
    73. Burbelo, PD; Kozak, CA; Finegold, AA; Hall, A; Pirone, DM
      Cloning, central nervous system expression and chromosomal mapping of the mouse PAK-1 and PAK-3 genes

      GENE
    74. Yeshaya, J; Shalgi, R; Shohat, M; Avivi, L
      FISH-detected delay in replication timing of mutated FMR1 alleles on both active and inactive X-chromosomes

      HUMAN GENETICS
    75. Gecz, J; Baker, E; Donnelly, A; Ming, JE; McDonald-McGinn, DM; Spinner, NB; Zackai, EH; Sutherland, GR; Mulley, JC
      Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

      HUMAN GENETICS
    76. Goizet, C; Bonneau, D; Lacombe, D
      W syndrome: Report of three cases and review

      AMERICAN JOURNAL OF MEDICAL GENETICS
    77. Pradhan, M; Phadke, SR; Jain, S; Agarwal, SS
      Pachygyria/hypogenitalism: A monogenic syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    78. Wittine, LM; Josephson, KD; Williams, MS
      Aortic root dilation in apparent Lujan-Fryns syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    79. Holinski-Feder, E; Chahrockh-Zadeh, S; Rittinger, O; Jedele, KB; Gasteiger, M; Lenski, C; Murken, J; Golla, A
      Nonsyndromic X-linked mental retardation: Mapping of MRX58 to the pericentromeric region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    80. Graham, JM; Superneau, D; Rogers, RC; Corning, K; Schwartz, CE; Dykens, EM
      Clinical and behavioral characteristics in FG syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    81. Carpenter, NJ; Qu, Y; Curtis, M; Patil, SR
      X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq

      AMERICAN JOURNAL OF MEDICAL GENETICS
    82. 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
    83. Lubs, H; Abidi, F; Bier, JAB; Abuelo, D; Ouzts, L; Voeller, K; Fennell, E; Stevenson, RE; Schwartz, CE; Arena, F
      XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28

      AMERICAN JOURNAL OF MEDICAL GENETICS
    84. Abidi, F; Schwartz, CE; Carpenter, NJ; Villard, L; Fontes, M; Curtis, M
      Carpenter-Waziri syndrome results from a mutation in XNP

      AMERICAN JOURNAL OF MEDICAL GENETICS
    85. Chudley, AE; Tackels, DC; Lubs, HA; Arena, JF; Stoeber, WP; Kovnats, S; Stevenson, RE; Schwartz, CE
      X-linked mental retardation syndrome with seizures, hypogammaglobulinemia,and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23

      AMERICAN JOURNAL OF MEDICAL GENETICS
    86. Carpenter, NJ; Brown, WT; Qu, Y; Keenan, KL
      Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    87. Ben Jemaa, L; des Portes, V; Zemni, R; Mrad, R; Maazoul, F; Beldjord, C; Chaabouni, H; Chelly, J
      Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    88. Claes, S; Volcke, P; Devriendt, K; Holvoet, M; Raeymaekers, P; Cassiman, JJ; Fryns, JP
      Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1

      AMERICAN JOURNAL OF MEDICAL GENETICS
    89. Hamel, BCJ; Smits, APT; van den Helm, B; Smeets, DFCM; Knoers, NVAM; van Roosmalen, T; Thoonen, GHJ; Assman-Hulsmans, CFCH; Ropers, HH; Mariman, ECM; Kremer, H
      Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    90. Yntema, HG; van den Helm, B; Knoers, NVAM; Smits, APT; van Roosmalen, T; Smeets, DFCM; Mariman, ECM; van der Burgt, I; van Bokhoven, H; Ropers, HH; Kremer, H; Hamel, BCJ
      X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

      AMERICAN JOURNAL OF MEDICAL GENETICS
    91. Poon, PMK; Pang, CP; Chen, QL; Zhong, N; Lai, KYC; Lau, CH; Wong, CK; Brown, WT
      FRAXAC1 and DXS548 polymorphisms in the Chinese population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    92. Shrimpton, AE; Daly, KM; Hoo, JJ
      Mapping of a gene (MRXS9) for X-linked mental Retardation, microcephaly, and variably short stature to Xq12-q21.31

      AMERICAN JOURNAL OF MEDICAL GENETICS
    93. Lubs, H; Chiurazzi, P; Arena, J; Schwartz, C; Tranebjaerg, L; Neri, G
      XLMR genes: Update 1998

      AMERICAN JOURNAL OF MEDICAL GENETICS
    94. van Roosmalen, T; Smits, APT; Thoonen, GHJ; Hamel, BCJ; Assman-Hulmans, CFCH; Gabreels, FJM
      Psychometric assessment of families with X-linked mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Ronce, N; Raynaud, M; Toutain, A; Moizard, MP; Colleaux, L; Gendrot, C; Briault, S; Moraine, C
      Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinicaland molecular data in one family

      AMERICAN JOURNAL OF MEDICAL GENETICS
    96. Villard, L; Briault, S; Lossi, AM; Paringaux, C; Belougne, J; Colleaux, L; Pincus, DR; Woollatt, E; Lespinasse, J; Munnich, A; Moraine, C; Fontes, H; Gecz, J
      Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1

      JOURNAL OF MEDICAL GENETICS
    97. Christianson, AL; Stevenson, RE; van der Meyden, CH; Pelser, J; Theron, FW; van Rensburg, PL; Chandler, M; Schwartz, CE
      X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred islocalised to Xq24-q27

      JOURNAL OF MEDICAL GENETICS
    98. Minet, AD; Rubin, BP; Tucker, RP; Baumgartner, S; Chiquet-Ehrismann, R
      Teneurin-1, a vertebrate homologue of the Drosophila pair-rule gene Ten-m,is a neuronal protein with a novel type of heparin-binding domain

      JOURNAL OF CELL SCIENCE
    99. Sloan, JL; Mager, S
      Cloning and functional expression of a human Na+ and Cl--dependent neutraland cationic amino acid transporter B0+

      JOURNAL OF BIOLOGICAL CHEMISTRY
    100. Cario, H; Bode, H; Gustavsson, P; Dahl, N; Kohne, E
      A microdeletion syndrome due to a 3-Mb deletion on 19q13.2 - Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

      CLINICAL GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/02/20 alle ore 08:36:42