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La ricerca find articoli where soggetti phrase all words 'uniparental disomy' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 418 riferimenti
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    1. Thompson, DA; McHenry, CL; Li, Y; Richards, JE; Othman, MI; Schwinger, E; Vollrath, D; Jacobson, SG; Gal, A
      Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome2, with homoallelism for mutations in RPE65 or MERTK, respectively

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Villar, AJ; Carlson, EJ; Gillespie, AM; Ursell, PC; Epstein, CJ
      Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12

      GENESIS
    3. Fukuzawa, R; Umezawa, A; Morikawa, Y; Kim, KC; Nagai, T; Hata, JI
      Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: Case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    4. Indo, Y
      Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor

      HUMAN MUTATION
    5. Lebedev, IN; Nazarenko, SA
      Tissue-specific placental mosaicism for autosomal trisomies in human spontaneous abortuses: Mechanisms of formation and phenotypical effects

      RUSSIAN JOURNAL OF GENETICS
    6. Colleaux, L; Rio, M; Heuertz, S; Moindrault, S; Turleau, C; Ozilou, C; Gosset, P; Raoult, O; Lyonnet, S; Cormier-Daire, V; Amiel, J; Le Merrer, M; Picq, M; de Blois, MC; Prieur, M; Romana, S; Cornelis, F; Vekemans, M; Munnich, A
      A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

      EUROPEAN JOURNAL OF HUMAN GENETICS
    7. Hitchins, MP; Monk, D; Bell, GM; Ali, Z; Preece, MA; Stanier, P; Moore, GE
      Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB70 in Silver-Russell syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    8. Sanz, R; Lorda-Sanchez, I; Fernandez-Moya, JM; Cifuentes-Sulzberger, S; de Alba, MR; Gonzalez-Gonzalez, MC; Ibanez, MA; Robledo, M; Ayuso, C; Ramos, C
      Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations

      FETAL DIAGNOSIS AND THERAPY
    9. Stipoljev, F; Latin, V; Kos, M; Miskovic, B; Kurjak, A
      Correlation of confined placental mosaicism with fetal intrauterine growthretardation - A case control study of placentas at delivery

      FETAL DIAGNOSIS AND THERAPY
    10. Towner, D; Yang, SP; Shaffer, LG
      Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    11. Hauschild, R; Wollina, U; Bruckner-Tuderman, L
      Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects

      JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
    12. Hodapp, RM; Dykens, EM
      Strengthening behavioral research on genetic mental retardation syndromes

      AMERICAN JOURNAL ON MENTAL RETARDATION
    13. Chamberlain, SJ; Brannan, CI
      The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a

      GENOMICS
    14. Ono, R; Kobayashi, S; Wagatsuma, H; Aisaka, K; Kohda, T; Kaneko-Ishino, T; Ishino, F
      A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21

      GENOMICS
    15. Hannula, K; Lipsanen-Nyman, M; Scherer, SW; Holmberg, C; Hoglund, P; Kere, J
      Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA

      GENOMICS
    16. Dorr, S; Midro, AT; Farber, C; Giannakudis, J; Hansmann, I
      Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24

      GENOMICS
    17. Aktas, D; Tuncbilek, E; Onderoglu, L
      Chromosomal mosaicism in a pregnant woman treated with acyclovir for herpes simplex encephalitis

      AMERICAN JOURNAL OF PERINATOLOGY
    18. Dorr, S; Schlicker, M; Hansmann, I
      Genomic structure of karyopherin alpha 2 (KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome

      HUMAN GENETICS
    19. Milenkovic, T; Zdravkovic, D; Gardner, RJ; Ignjatovic, M; Jankovic, B
      Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    20. Sarici, SU; Alpay, F; Dundaroz, MR; Gokcay, E
      Neonatal diabetes mellitus: Patient report and review of the literature

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    21. Maurer, B; Haaf, T; Stout, K; Reissmann, N; Steinlein, C; Schmid, M
      Two supernumerary marker chromosomes, originating from chromosomes 6 and 11, in a child with developmental delay and craniofacial dysmorphism

      CYTOGENETICS AND CELL GENETICS
    22. Rittinger, O
      Clinical features and genetic analysis of Prader-Willi Syndrome

      KLINISCHE PADIATRIE
    23. Bin-Abbas, B; Shabib, S; Bo, HN; Al-Ashwal, A
      Wolcott-Rallison syndrome: Clinical, radiological and histological findings in a Saudi child

      ANNALS OF SAUDI MEDICINE
    24. Abrams, DJ; Aronoff, AR; Berend, SA; Roa, BB; Shaffer, LG; Geier, MR
      Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15

      PRENATAL DIAGNOSIS
    25. Towner, DR; Shaffer, LG; Yang, SP; Walgenbach, DD
      Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

      PRENATAL DIAGNOSIS
    26. Van Opstal, D; van den Berg, C; Galjaard, RJH; Los, FJ
      Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results

      PRENATAL DIAGNOSIS
    27. Salafsky, IS; MacGregor, SN; Claussen, U; von Eggeling, F
      Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20

      PRENATAL DIAGNOSIS
    28. Kuchinka, BD; Barrett, IJ; Moya, G; Sanchez, JM; Langlois, S; Yong, SL; Kalousek, DK; Robinson, WP
      Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy

      PRENATAL DIAGNOSIS
    29. Martinez, MJ; Binkert, F; Schinzel, A; Kotzot, D
      No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. Anderlid, BM; Sahlen, S; Schoumans, J; Holmberg, E; Ahsgren, I; Mortier, G; Speleman, F; Blennow, E
      Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    31. Russell, KL; Ming, JE; Patel, K; Jukofsky, L; Magnusson, M; Krantz, ID
      Dominant paternal transmission of Cornelia de Lange syndrome: A new case and review of 25 previously reported familial recurrences

      AMERICAN JOURNAL OF MEDICAL GENETICS
    32. Kato, R; Kishibayashi, J; Shimokawa, O; Harada, N; Niikawa, N; Matsumoto, N
      Congenital glaucoma and silver-russell phenotype associated with partial trisomy 7q and monosomy 15q

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Kobayashi, S; Uemura, H; Kohda, T; Nagai, T; Chinen, Y; Naritomi, K; Kinoshita, E; Ohashi, H; Imaizumi, K; Tsukahara, M; Sugio, Y; Tonoki, H; Kishino, T; Tanaka, T; Yamada, M; Tsutsumi, O; Niikawa, N; Kaneko-Ishino, T; Ishino, F
      No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    34. Miyoshi, O; Yabe, R; Wakui, K; Fukushima, Y; Koizumi, S; Uchikawa, M; Kajii, T; Numakura, C; Takahashi, S; Hayasaka, K; Niikawa, N
      Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1

      AMERICAN JOURNAL OF MEDICAL GENETICS
    35. Cockwell, AE; Davalos, IP; Rivera, HR; Crolla, JA
      FISH characterization of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    36. Tung, G; Covert, SM; Malabed, KL; Wohlferd, MM; Beckerman, KP; Goldberg, JD; Cotter, PD
      Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Krantz, ID; Tonkin, E; Smith, M; Devoto, M; Bottani, A; Simpson, C; Hofreiter, M; Abraham, V; Jukofsky, L; Conti, BP; Strachan, T; Jackson, L
      Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. Kamnasaran, D
      Epigenetic inheritance associated with human chromosome 14

      CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE
    39. Miozzo, M; Grati, FR; Bulfamante, G; Rossella, F; Cribiu, M; Radaelli, T; Cassani, B; Persico, T; Cetin, I; Pardi, G; Simoni, G
      Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression

      PLACENTA
    40. Terada, T; Kaneko, H; Li, AL; Kasahara, K; Ibe, M; Yokota, S; Kondo, N
      Analysis of Ig subclass deficiency: First reported case of IgG2, IgG4, andIgA deficiency caused by deletion of Cal, psi C gamma, C gamma 2, C gamma 4, and C epsilon in a Mongoloid patient

      JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
    41. Santa Maria, LS; Curotto, B; Cortes, F; Rojas, C; Alliende, MA
      Methylation, cytogenetic and FISH tests in the molecular diagnosis of Prader-Willi and Angelman syndromes

      REVISTA MEDICA DE CHILE
    42. Gunay-Aygun, M; Schwartz, S; Heeger, S; O'Riordan, MA; Cassidy, SB
      The changing purpose of Prader-Willi syndrome clinical diagnostic criteriaand proposed revised criteria

      PEDIATRICS
    43. Kotzot, D
      Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

      JOURNAL OF MEDICAL GENETICS
    44. Mignon-Ravix, C; Mugneret, F; Stavropoulou, C; Depetris, D; Van Kien, PK; Mattei, MG
      Maternally inherited duplication of the possible imprinted 14q31 region

      JOURNAL OF MEDICAL GENETICS
    45. Eggermann, T; Mergenthaler, S; Eggermann, K; Albers, A; Linnemann, K; Fusch, C; Ranke, MB; Wollmann, HA
      Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

      JOURNAL OF MEDICAL GENETICS
    46. Bakker, B; Bikker, H; Hennekam, RCM; Lommen, EJP; Schipper, MGJ; Vulsma, T; de Vijlder, JJM
      Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    47. Orellana, C; Martinez, F; Badia, L; Millan, JM; Montero, MR; Andres, J; Prieto, F
      Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

      CLINICAL GENETICS
    48. Kotzot, D
      Comparative analysis of isodisomic and heterodisomic segments in cases with maternal uniparental disomy 14 suggests more than one imprinted region

      CLINICAL GENETICS
    49. Hanel, ML; Wevrick, R
      The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome

      CLINICAL GENETICS
    50. Gilmour, J; Skuse, D; Pembrey, M
      Hyperphagic short stature and Prader-Willi syndrome: a comparison of behavioural phenotypes, genotypes and indices of stress

      BRITISH JOURNAL OF PSYCHIATRY
    51. McCann, JA; Zheng, H; Islam, A; Goodyer, CG; Polychronakos, C
      Evidence against GRB10 as the gene responsible for Silver-Russell syndrome

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    52. Eliez, S; Antonarakis, SE; Morris, MA; Dahoun, SP; Reiss, AL
      Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome - A preliminary study

      ARCHIVES OF GENERAL PSYCHIATRY
    53. Gerard-Blanluet, M; Elbez, A; Bazin, A; Danan, C; Verloes, A; Janaud, JC
      Mosaic trisomy 15 and hemihypertrophy

      ANNALES DE GENETIQUE
    54. Eggermann, T; Marg, W; Mergenthaler, S; Eggermann, K; Schemmel, V; Stoffers, U; Zerres, K; Spranger, S
      Origin of uniparental disomy 6: presentation of a new case and review on the literature

      ANNALES DE GENETIQUE
    55. Robinson, WP; McFadden, DE; Stephenson, MD
      The origin of abnormalities in recurrent aneuploidy/polyploidy

      AMERICAN JOURNAL OF HUMAN GENETICS
    56. Kalousek, DK; Vekemans, M
      Confined placental mosaicism and genomic imprinting

      BEST PRACTICE & RESEARCH IN CLINICAL OBSTETRICS & GYNAECOLOGY
    57. Fridman, C; Koiffmann, CP
      Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman syndromes

      GENETICS AND MOLECULAR BIOLOGY
    58. Meschede, D; Dworniczak, B; Behre, HM; Nieschlag, E; Horst, J
      No evidence for uniparental disomy of the sex chromosomes in idiopathic male infertility

      MOLECULAR HUMAN REPRODUCTION
    59. Miyoshi, N; Wagatsuma, H; Wakana, S; Shiroishi, T; Nomura, M; Aisaka, K; Kohda, T; Surani, MA; Kaneko-Ishino, T; Ishino, F
      Identification of an imprinted gene, Meg3/Gtl2 and its human homologue MEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q

      GENES TO CELLS
    60. Kobayashi, S; Wagatsuma, H; Ono, R; Ichikawa, H; Yamazaki, M; Tashiro, H; Aisaka, K; Miyoshi, N; Kohda, T; Ogura, A; Ohki, M; Kaneko-Ishino, T; Ishino, F
      Mouse Peg9/Dlk1 and human PEG9/DLK1 are paternally expressed imprinted genes closely located to the maternally expressed imprinted genes: mouse Meg3/Gtl2 and human MEG3

      GENES TO CELLS
    61. Fridman, C; Varela, MC; Kok, F; Setian, N; Koiffmann, CP
      Prader-Willi syndrome: Genetic tests and clinical findings

      GENETIC TESTING
    62. Dimitropoulos, A; Feurer, ID; Roof, E; Stone, W; Butler, MG; Sutcliffe, J; Thompson, T
      Appetitive behavior compulsivity, and neurochemistry in Prader-Willi syndrome

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    63. Noone, PG; Pue, CA; Zhou, ZQ; Friedman, KJ; Wakeling, EL; Ganeshananthan, M; Simon, RH; Silverman, LM; Knowles, MR
      Lung disease associated with the IVS8 5T allele of the CFTR gene

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    64. Butler, MG; Thompson, T
      Prader-Willi syndrome: Clinical and genetic findings

      ENDOCRINOLOGIST
    65. Kotzot, D; Schinzel, A
      Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    66. Marquis, E; Robert, JJ; Benezech, C; Junien, C; Diatloff-Zito, C
      Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6

      EUROPEAN JOURNAL OF HUMAN GENETICS
    67. Mertens, DJLM; De Die-Smulders, CEM; Kampschoer, PHNM; Offermans, JPM; Engelen, JJM; Hamers, AJH; Lammens, M; Schrander-Stumpel, CTRM
      14q terminal deletion: Prenatal diagnosis in a child with severe congenital anomalies

      GENETIC COUNSELING
    68. Blagitko, N; Mergenthaler, S; Schulz, U; Wollmann, HA; Craigen, W; Eggermann, T; Ropers, HH; Kalscheuer, VM
      Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

      HUMAN MOLECULAR GENETICS
    69. Roof, E; Stone, W; MacLean, W; Feurer, ID; Thompson, T; Butler, MG
      Intellectual characteristics of Prader-Willi syndrome: comparison of genetic subtypes

      JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
    70. Russo, S; Bedeschi, MF; Cogliati, F; Natacci, F; Gianotti, A; Parini, R; Selicorni, A; Larizza, L
      Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1biallelic expression

      CLINICAL DYSMORPHOLOGY
    71. Georgiades, P; Watkins, M; Surani, MA; Ferguson-Smith, AC
      Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12

      DEVELOPMENT
    72. Arima, T; Drewell, RA; Oshimura, M; Wake, N; Surani, MA
      A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC

      GENOMICS
    73. Hauffa, BP; Schlippe, G; Roos, M; Gillessen-Kaesbach, G; Gasser, T
      Spontaneous growth in German children and adolescents with genetically confirmed Prader-Willi syndrome

      ACTA PAEDIATRICA
    74. Kotzot, D; Balmer, D; Baumer, A; Chrzanowska, K; Hamel, BCJ; Ilyina, H; Krajewska-Walasek, M; Lurie, IW; Otten, BJ; Schoenle, E; Tariverdian, G; Schinzel, A
      Maternal uniparental disomy 7 - review and further delineation of the phenotype

      EUROPEAN JOURNAL OF PEDIATRICS
    75. Devriendt, K
      Genetic control of intra-uterine growth

      EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY
    76. Beechey, CV
      Peg1/Mestlocates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth

      CYTOGENETICS AND CELL GENETICS
    77. Shield, JPH
      Neonatal diabetes: New insights into aetiology and implications

      HORMONE RESEARCH
    78. Gualandi, F; Sensi, A; Trabanelli, C; Falciano, F; Bonfatti, A; Calzolari, E
      Prenatal UPD testing survey in Robertsonian translocations

      PRENATAL DIAGNOSIS
    79. Johnson, P; Duncan, K; Blunt, S; Bell, G; Ali, Z; Cox, P; Moore, GE
      Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report

      PRENATAL DIAGNOSIS
    80. Glenn, CC; Deng, G; Michaelis, RC; Tarleton, J; Phelan, MC; Surh, L; Yang, TP; Driscoll, DJ
      DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting

      PRENATAL DIAGNOSIS
    81. Farra, C; Giudicelli, B; Pellissier, MC; Philip, N; Piquet, C
      Fetoplacental chromosomal discrepancy

      PRENATAL DIAGNOSIS
    82. Walczak, C; Enders, H; Grissinger, K; Dufke, A
      Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embeddedplacental tissue in a newborn girl with Prader-Willi syndrome

      PRENATAL DIAGNOSIS
    83. Slater, HR; Ralph, A; Daniel, A; Worthington, S; Roberts, C
      A case of maternal uniparental disomy of chromosome 9 diagnosed prenatallyand the related problem of residual trisomy

      PRENATAL DIAGNOSIS
    84. Cassidy, SB; Dykens, E; Williams, CA
      Prader-Willi and Angelman Syndromes: Sister imprinted disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    85. DeLozier-Blanchet, CD; Roeder, E; Denis-Arrue, R; Blouin, JL; Low, J; Fisher, J; Scharnhorst, D; Curry, CJ
      Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

      AMERICAN JOURNAL OF MEDICAL GENETICS
    86. Ginsburg, C; Fokstuen, S; Schinzel, B
      The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

      AMERICAN JOURNAL OF MEDICAL GENETICS
    87. Kayser, M; Henderson, LB; Kreutzman, J; Schreck, R; Graham, JM
      Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    88. Chan, Y; Silverman, N; Jackson, L; Wapner, R; Wallerstein, R
      Maternal uniparental disomy of chromosome 16 and body stalk anomaly

      AMERICAN JOURNAL OF MEDICAL GENETICS
    89. Fridman, C; Koiffmann, CP
      Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    90. Bruyere, H; Rupps, R; Kuchinka, BD; Friedman, JM; Robinson, WP
      Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line

      AMERICAN JOURNAL OF MEDICAL GENETICS
    91. Sutton, VR; Shaffer, LG
      Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

      AMERICAN JOURNAL OF MEDICAL GENETICS
    92. Karanjawala, ZE; Kaariainen, H; Ghosh, S; Tannenbaum, J; Martin, C; Ally, D; Tuomilehto, J; Valle, T; Collins, FS
      Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid turner

      AMERICAN JOURNAL OF MEDICAL GENETICS
    93. Olander, E; Stamberg, J; Steinberg, L; Wulfsberg, EA
      Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

      AMERICAN JOURNAL OF MEDICAL GENETICS
    94. Fridman, C; Varela, MC; Kok, F; Diament, A; Koiffmann, CP
      Paternal UPD15: Further genetic and clinical studies in four Angelman syndrome patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Itoh, N; Becroft, DMO; Reeve, AE; Morison, IM
      Proportion of cells with paternal 11p15 uniparental disomy correlates withorgan enlargement in Wiedemann-Beckwith syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    96. Kohlhase, J; Janssen, P; Weidenauer, K; Harms, K; Bartels, I
      First confirmed case with paternal uniparental disomy of chromosome 16

      AMERICAN JOURNAL OF MEDICAL GENETICS
    97. Kalousek, DK
      Pathogenesis of chromosomal mosaicism and its effect on early human development

      AMERICAN JOURNAL OF MEDICAL GENETICS
    98. Soler, A; Margarit, E; Queralt, R; Carrio, A; Costa, D; Gomez, D; Ballesta, F
      Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    99. Gilchrist, D; Glerum, DM; Wevrick, R
      Deconstructing Mendel: new paradigms in genetic mechanisms

      CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE
    100. Hermann, R; Laine, AP; Johansson, C; Niederland, T; Tokarska, L; Dziatkowiak, H; Ilonen, J; Soltesz, G
      Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

      PEDIATRICS


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Documento generato il 25/02/20 alle ore 10:56:19