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    1. Wu, YQ; Lin, X; Liu, CM; Jamrich, M; Shaffer, LG
      Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily

      MOLECULAR GENETICS AND METABOLISM
    2. Bandyopadhyay, R; McQuillan, C; Page, SL; Choo, KHA; Shaffer, LG
      Identification and characterization of satellite III subfamilies to the acrocentric chromosomes

      CHROMOSOME RESEARCH
    3. Bandyopadhyay, R; Berend, SA; Page, SL; Choo, KHA; Shaffer, LG
      Satellite III sequences on 14p and their relevance to Robertsonian translocation formation

      CHROMOSOME RESEARCH
    4. Towner, D; Yang, SP; Shaffer, LG
      Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter

      ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    5. Inoue, K; Tanaka, H; Scaglia, F; Araki, A; Shaffer, LG; Lupski, JR
      Compensating for central nervous system dysmyelination: Females with a proteolipid protein gene duplication and sustained clinical improvement

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

      PRENATAL DIAGNOSIS
    7. 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
    8. Shaffer, LG
      Reply to the letter to the editor by Wuyts et al. - "Burning down DEFECT11"

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Heilstedt, HA; Burgess, DL; Anderson, AE; Chedrawi, A; Tharp, B; Lee, O; Kashork, CD; Starkey, DE; Wu, YQ; Noebels, JL; Shaffer, LG; Shapira, SK
      Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome

      EPILEPSIA
    10. Stankiewicz, P; Park, SS; Holder, SE; Waters, CS; Palmer, RW; Berend, SA; Shaffer, LG; Potocki, L; Lupski, JR
      Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derivedfrom chromosome 17: molecular analysis and delineation of the phenotype

      CLINICAL GENETICS
    11. Hall, CR; Wu, Y; Shaffer, LG; Hecht, JT
      Familial case of Potocki-Shaffer syndrome associated with microdeletion ofEXT2 and ALX4

      CLINICAL GENETICS
    12. Stockton, DW; Meade, RA; Netscher, DT; Epstein, MJ; Shenaq, SM; Shaffer, LG; Lupski, JR
      Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic carpal tunnel syndrome

      ARCHIVES OF NEUROLOGY
    13. Kenwrick, S; Woffendin, H; Jakins, T; Shuttleworth, SG; Mayer, E; Greenhalgh, L; Whittaker, J; Rugolotto, S; Bardaro, T; Esposito, T; D'Urso, M; Soli, F; Turco, A; Smahi, A; Hamel-Teillac, D; Lyonnet, S; Bonnefont, JP; Munnich, A; Aradhya, S; Kashork, CD; Shaffer, LG; Nelson, DL; Levy, M; Lewis, RA
      Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    14. Potocki, L; Chen, KS; Park, SS; Osterholm, DE; Withers, MA; Kimonis, V; Summers, AM; Meschino, WS; Anyane-Yeboa, K; Kashork, CD; Shaffer, LG; Lupski, JR
      Molecular mechanism for duplication 17p11.2 - the homologous recombinationreciprocal of the Smith-Magenis microdeletion

      NATURE GENETICS
    15. Ligon, AH; Kashork, CD; Richards, CS; Shaffer, LG
      Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

      EUROPEAN JOURNAL OF HUMAN GENETICS
    16. Ballif, BC; Kashork, CD; Shaffer, LG
      FISHing for mechanisms of cytogenetically defined terminal deletions usingchromosome-specific subtelomeric probes

      EUROPEAN JOURNAL OF HUMAN GENETICS
    17. Earle, E; Saxena, A; MacDonald, A; Hudson, DF; Shaffer, LG; Saffery, R; Cancilla, MR; Cutts, SM; Howman, E; Choo, KHA
      Poly(ADP-ribose) polymerase at active centromeres and neocentromeres at metaphase

      HUMAN MOLECULAR GENETICS
    18. Britton, RA; Chen, SM; Wallis, D; Koeuth, T; Powell, BS; Shaffer, LG; Largaespada, D; Jenkins, NA; Copeland, NG; Court, DL; Lupski, JR
      Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era

      GENOMICS
    19. Tubb, BE; Bardien-Kruger, S; Kashork, CD; Shaffer, LG; Ramagli, LS; Xu, JP; Siciliano, MJ; Bryan, J
      Characterization of human retinal fascin gene (FSCN2) at 17q25: Close physical linkage of fascin and cytoplasmic actin genes

      GENOMICS
    20. Wallerstein, R; Yu, MT; Neu, RL; Benn, P; Bowen, CL; Crandall, B; Disteche, C; Donahue, R; Harrison, B; Hershey, D; Higgins, RR; Jenkins, LS; Jackson-Cook, C; Keitges, E; Khodr, G; Lin, CC; Luthardt, FW; Meisner, L; Mengden, G; Patil, SR; Rodriguez, M; Sciorra, LJ; Shaffer, LG; Stetten, G; Van Dyke, DL; Wang, HS; Williams, F; Zaslav, AL; Hsu, LYF
      Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13,18, 20 and 21: karyotype-phenotype correlations

      PRENATAL DIAGNOSIS
    21. 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
    22. Bacino, CA; Kashork, CD; Davino, NA; Shaffer, LG
      Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Atkins, KE; Gregg, A; Spikes, AS; Bacino, CA; Bejjani, BA; Kirkland, J; Shaffer, LG
      Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Berend, SA; Spikes, AS; Kashork, CD; Wu, JM; Daw, SC; Scambler, PJ; Shaffer, LG
      Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Scaglia, F; Bodamer, OAF; Berend, SA; Adam, LR; Shaffer, LG
      Deletion (9) (p13.1 p21.1)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Shaffer, LG; Lupski, JR
      Molecular mechanisms for constitutional chromosomal rearrangements in humans

      ANNUAL REVIEW OF GENETICS
    27. Potocki, L; Glaze, D; Tan, DX; Park, SS; Kashork, CD; Shaffer, LG; Reiter, RJ; Lupski, JR
      Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

      JOURNAL OF MEDICAL GENETICS
    28. Li, DX; Burch, P; Gonzalez, O; Kashork, CD; Shaffer, LG; Bachinski, LL; Roberts, R
      Molecular cloning, expression analysis, and chromosome mapping of WDR6, a novel human WD-repeat gene

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    29. Wu, YQ; Badano, JL; McCaskill, C; Vogel, H; Potocki, L; Shaffer, LG
      Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    30. Ballif, BC; Kashork, CD; Shaffer, LG
      The promise and pitfalls of telomere region-specific probes

      AMERICAN JOURNAL OF HUMAN GENETICS
    31. Berend, SA; Horwitz, J; McCaskill, C; Shaffer, LG
      Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes

      AMERICAN JOURNAL OF HUMAN GENETICS
    32. Wu, YQ; Heilstedt, HA; Bedell, JA; May, KM; Starkey, DE; McPherson, JD; Shapira, SK; Shaffer, LG
      Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

      HUMAN MOLECULAR GENETICS
    33. Inoue, K; Osaka, H; Imaizumi, K; Nezu, A; Takanashi, J; Arii, J; Murayama, K; Ono, J; Kikawa, Y; Mito, T; Shaffer, LG; Lupski, JR
      Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

      ANNALS OF NEUROLOGY
    34. Bowles, KR; Gibson, J; Wu, J; Shaffer, LG; Towbin, JA; Bowles, NE
      Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene

      HUMAN GENETICS
    35. Kashork, CD; Lupski, JR; Shaffer, LG
      Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization

      PRENATAL DIAGNOSIS
    36. Han, JY; Kim, KH; Lee, HD; Moon, SY; Shaffer, LG
      De novo direct duplication of 15q15 -> q24 in a newborn boy with mild manifestations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Shaffer, LG; Kashork, CD; Bacino, CA; Benke, PJ
      Caution: Telomere crossing

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. Mutchinick, OM; Shaffer, LG; Kashork, CD; Cervantes, EI
      Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci

      AMERICAN JOURNAL OF MEDICAL GENETICS
    39. Berend, SA; Feldman, GL; McCaskill, C; Czarnecki, P; Van Dyke, DL; Shaffer, LG
      Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    40. Bacino, CA; Lee, B; Spikes, AS; Shaffer, LG
      Trisomy 16q in a female newborn with a de novo X;16 translocation and hypoplastic left heart

      AMERICAN JOURNAL OF MEDICAL GENETICS
    41. Slavotinek, A; Shaffer, LG; Shapira, SK
      Monosomy 1p36

      JOURNAL OF MEDICAL GENETICS
    42. Wu, YQ; Nickerson, E; Shaffer, LG; Keppler-Noreuil, K; Muilenburg, A
      A case of Williams syndrome with a large, visible cytogenetic deletion

      JOURNAL OF MEDICAL GENETICS
    43. Heilstedt, HA; Shapira, SK; Gregg, AR; Shaffer, LG
      Molecular and clinical characterization of a patient with duplication of 1p36.3 and metopic synostosis

      CLINICAL GENETICS
    44. Berend, SA; Shaffer, LG; Bejjani, BA
      Pure trisomy 10p involving an isochromosome 10p

      CLINICAL GENETICS
    45. Edelmann, L; Spiteri, E; McCain, N; Goldberg, R; Pandita, RK; Duong, S; Fox, J; Blumenthal, D; Lalani, SR; Shaffer, LG; Morrow, BE
      A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation

      AMERICAN JOURNAL OF HUMAN GENETICS
    46. Potocki, L; Chen, KS; Koeuth, T; Killian, J; Iannaccone, ST; Shapira, SK; Kashork, CD; Spikes, AS; Shaffer, LG; Lupski, JR
      DNA rearrangements on both homologues of chromosome 17 in a mildly delayedindividual with a family history of autosomal dominant carpal tunnel syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    47. VANHOOSER A; CABELLO OA; SHAFFER LG; ADAM LR; ALLIS CD; YOUSSOUFIAN H; BELMONT JW; BRINKLEY BR
      DEFECTIVE HISTONE H4 DEACETYLATION IN ROBERTS-SYNDROME FIBROBLASTS

      Molecular biology of the cell
    48. PAGE SL; SHAFFER LG
      CHROMOSOME STABILITY IS MAINTAINED BY SHORT INTERCENTROMERIC DISTANCEIN FUNCTIONALLY DICENTRIC HUMAN ROBERTSONIAN TRANSLOCATIONS

      Chromosome research
    49. BEREND SA; MCCASKILL C; CZARNECKI P; FELDMAN GL; VANDYKE DL; SHAFFER LG
      PATERNAL UNIPARENTAL DISOMY 13 INVOLVING ISOCHROMOSOMES

      Cytogenetics and cell genetics
    50. SHAFFER LG; MCCASKILL C
      ROBERTSONIAN TRANSLOCATIONS - WHAT ARE THE RISKS FOR UNIPARENTAL DISOMY

      Cytogenetics and cell genetics
    51. CANUN S; MUTCHINICK O; SHAFFER LG; FERNANDEZ C
      COMBINED TRISOMY-9 AND ULLRICH-TURNER-SYNDROME IN A GIRL WITH A 46,X,DER(9)T(X-9)(Q12-Q32) KARYOTYPE

      American journal of medical genetics
    52. BEREND SA; CANUN S; MCCASKILL C; PAGE SL; SHAFFER LG
      MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS DEMONSTRATES DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION

      American journal of medical genetics
    53. SHAFFER LG; MCCASKILL C; ADKINS K; HASSOLD TJ
      SYSTEMATIC SEARCH FOR UNIPARENTAL DISOMY IN EARLY FETAL LOSSES - THE RESULTS AND A REVIEW OF THE LITERATURE

      American journal of medical genetics
    54. WU YQ; SUTTON VR; NICKERSON E; LUPSKI JR; POTOCKI L; KORENBERG JR; GREENBERG F; TASSABEHJI M; SHAFFER LG
      DELINEATION OF THE COMMON CRITICAL REGION IN WILLIAMS-SYNDROME AND CLINICAL CORRELATION OF GROWTH, HEART-DEFECTS, ETHNICITY, AND PARENTAL ORIGIN

      American journal of medical genetics
    55. LIGON AH; POTOCKI L; SHAFFER LG; STICKENS D; EVANS GA
      GENE FOR MULTIPLE EXOSTOSES (EXT2) MAPS TO 11(P11.2P12) AND IS DELETED IN PATIENTS WITH A CONTIGUOUS GENE SYNDROME

      American journal of medical genetics
    56. Goodman, BK; Shaffer, LG; Rutberg, J; Leppert, M; Harum, K; Gagos, S; Ray, JH; Bialer, MG; Zhou, XT; Pletcher, BA; Shapira, SK; Geraghty, MT
      Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

      AMERICAN JOURNAL OF MEDICAL GENETICS
    57. KING PH; WALDROP R; LUPSKI JR; SHAFFER LG
      CHARCOT-MARIE-TOOTH PHENOTYPE PRODUCED BY A DUPLICATED PMP22 GENE AS PART OF A 17P TRISOMY-TRANSLOCATION TO THE X-CHROMOSOME

      Clinical genetics
    58. SHAFFER LG; PHILLIPS MD
      SUCCESSFUL TREATMENT OF ACQUIRED HEMOPHILIA WITH ORAL IMMUNOSUPPRESSIVE THERAPY (VOL 127, PG 206, 1997)

      Annals of internal medicine
    59. PAN YZ; MCCASKILL CD; THOMPSON KH; HICKS J; CASEY B; SHAFFER LG; CRAIGEN WJ
      PATERNAL ISODISOMY OF CHROMOSOME-7 ASSOCIATED WITH COMPLETE SITUS-INVERSUS AND IMMOTILE CILIA

      American journal of human genetics
    60. PAGE SL; SHAFFER LG
      NONHOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS FORM PREDOMINANTLY DURING FEMALE MEIOSIS

      Nature genetics
    61. SCHROCK E; VELDMAN T; PADILLANASH H; NING Y; SPURBECK J; JALAL S; SHAFFER LG; PAPENHAUSEN P; KOZMA C; PHELAN MC; KJELDSEN E; SCHONBERG SA; OBRIEN P; BIESECKER L; DUMANOIR S; RIED T
      SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES

      Human genetics
    62. GAGOS S; SHAPIRA SK; LEE B; SPIKES AS; SHAFFER LG
      A NOVEL FISH BRDU TECHNIQUE REVEALS SKEWING OF X-INACTIVATION IN A PHENOTYPICALLY NORMAL MOTHER OF AN AFFECTED BOY WITH DUP(X)(Q27Q28)/

      Cytogenetics and cell genetics
    63. HSU LYF; YU MT; NEU RL; VANDYKE DL; BENN PA; BRADSHAW CL; SHAFFER LG; HIGGINS RR; KHODR GS; MORTON CC; WANG HS; BROTHMAN AR; CHADWICK D; DISTECHE CM; JENKINS LS; KALOUSEK DK; PANTZAR TJ; WYATT P
      RARE TRISOMY MOSAICISM DIAGNOSED IN AMNIOCYTES, INVOLVING AN AUTOSOMEOTHER THAN CHROMOSOME-13, CHROMOSOME-18, CHROMOSOME-20, AND CHROMOSOME-21 - KARYOTYPE PHENOTYPE CORRELATIONS/

      Prenatal diagnosis
    64. CHEUNG SW; SHAFFER LG; RICHARDS CS; PAGE SL; RICONDA DL
      PRENATAL-DIAGNOSIS OF A FETUS WITH A HOMOLOGOUS ROBERTSONIAN TRANSLOCATION OF CHROMOSOMES-15

      American journal of medical genetics
    65. STOCKTON DW; ROSS HL; BACINO CA; ALTMAN CA; SHAFFER LG; LUPSKI JR
      SEVERE CLINICAL PHENOTYPE DUE TO AN INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-1 - A BRIEF REVIEW

      American journal of medical genetics
    66. SHAPIRA SK; ORRURTREGER A; GAGOS S; SHAFFER LG
      CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING (VOL 69, PG 360, 1997)

      American journal of medical genetics
    67. SHAPIRA SK; ORRURTREGER A; GAGOS S; SHAFFER LG
      CONSTITUTIONAL MOSAICISM FOR A CHROMOSOME-9 INVERSION RESULTING IN RECOMBINANT ANEUSOMY IN AN OFFSPRING

      American journal of medical genetics
    68. SHAFFER LG; KENNEDY GM; SPIKES AS; LUPSKI JR
      DIAGNOSIS OF CMT1A DUPLICATIONS AND HNPP DELETIONS BY INTERPHASE FISH- IMPLICATIONS FOR TESTING IN THE CYTOGENETICS LABORATORY

      American journal of medical genetics
    69. VOSKOVAGOLDMAN A; PEIER A; CASKEY CT; RICHARDS CS; SHAFFER LG
      DMD-SPECIFIC FISH PROBES ARE DIAGNOSTICALLY USEFUL IN THE DETECTION OF FEMALE CARRIERS OF DMD-GENE DELETIONS

      Neurology
    70. SHAFFER LG; PHILLIPS MD
      SUCCESSFUL TREATMENT OF ACQUIRED HEMOPHILIA WITH ORAL IMMUNOSUPPRESSIVE THERAPY

      Annals of internal medicine
    71. POTOCKI L; KOEUTH T; CHEN KS; KILLIAN J; SHAFFER LG; LUPSKI JR
      DNA REARRANGEMENTS ON BOTH CHROMOSOME-17 HOMOLOGS IN A MILDLY DELAYEDINDIVIDUAL WITH A FAMILY HISTORY OF CARPAL-TUNNEL SYNDROME

      American journal of human genetics
    72. BEREND SA; CANUN S; MCCASKILL C; PAGE SL; SHAFFER LG
      MOLECULAR ANALYSIS OF MOSAICISM FOR 2 DIFFERENT DE-NOVO ACROCENTRIC REARRANGEMENTS REVEALS DIVERSITY IN ROBERTSONIAN TRANSLOCATION FORMATION

      American journal of human genetics
    73. DELLAQUILA ML; ZAMOJC EA; SHAFFER LG; SCIOSCIA AL; BRADSHAW CL; JONES KL
      INTRAUTERINE GROWTH-RETARDATION IN ASSOCIATION WITH A FETAL SUPERNUMERARY MARKER CHROMOSOME AND PLACENTAL TRISOMY-22

      American journal of human genetics
    74. HAN JY; LEE KM; KIM KH; SIN SD; HUH K; KOO SH; SHAFFER LG
      X-Y TRANSLOCATION IN A MENTALLY NORMAL PHENOTYPIC FEMALE WITH PRIMARYINFERTILITY, UTERINE AGENESIS, AND THE ABSENCE OF SRY

      American journal of human genetics
    75. SCHROCK E; VELDMAN T; PADILLANASH H; NING Y; SPURBECK J; JALAL S; SHAFFER LG; PAPENHAUSEN P; KOZMA C; PHELAN MC; KJELDSEN E; SCHONBERG SA; OBRIEN P; BIESECKER L; DUMANOIR S; RIED T
      SPECTRAL KARYOTYPING REFINES CYTOGENETIC DIAGNOSTICS OF CONSTITUTIONAL CHROMOSOMAL-ABNORMALITIES

      American journal of human genetics
    76. GEORGE L; HANNA JS; SHAFFER LG; ASTERBADI N
      A PRENATAL EXAMPLE OF EXTREME PSEUDOMOSAICISM

      American journal of human genetics
    77. KOCHMAR SJ; FRAER LM; SURTI U; SHAFFER LG; DEAL K; HOGGE WA
      HALF-CRYPTIC TRANSLOCATION DETECTED BY FISH IN A SPERM DONOR FOLLOWING DETECTION OF APPARENT DUPLICATION OF 5Q IN SPONTANEOUS ABORTUS TISSUE AND IN AMNIO FROM A SUBSEQUENT PREGNANCY

      American journal of human genetics
    78. WU YQ; TASSABEHJI M; SHAFFER LG
      MOLECULAR CHARACTERIZATION OF WILLIAMS-SYNDROME

      American journal of human genetics
    79. WALGENBACH DD; YANG SP; MCCASKILL C; SHAFFER LG; TOWNER DR
      MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-14 IN AN INFANT WITH MILD DYSMORPHOLOGY AND CONFINED PLACENTAL MOSAICISM

      American journal of human genetics
    80. SHAPRIA SK; MCCASKILL C; NORTHRUP H; SPIKES AS; ELDER FFB; SUTTON VR; KORENBERG JR; GREENBERG F; SHAFFER LG
      CHROMOSOME 1P36 DELETIONS - THE CLINICAL PHENOTYPE AND MOLECULAR CHARACTERIZATION OF A COMMON NEWLY DELINEATED SYNDROME

      American journal of human genetics
    81. FERRERO GB; GEBBIA M; PILIA G; WITTE D; PEIER A; HOPKIN RJ; CRAIGEN WJ; SHAFFER LG; SCHLESSINGER D; BALLABIO A; CASEY B
      A SUBMICROSCOPIC DELETION IN XQ26 ASSOCIATED WITH FAMILIAL SITUS AMBIGUUS

      American journal of human genetics
    82. SHAFFER LG; MCCASKILL C; EGLI CA; BAKER JC; JOHNSTON KM
      IS THERE AN ABNORMAL PHENOTYPE ASSOCIATED WITH MATERNAL ISODISOMY FORCHROMOSOME-2 IN THE PRESENCE OF 2 ISOCHROMOSOMES

      American journal of human genetics
    83. LIGON AH; BEAUDET AL; SHAFFER LG
      SIMULTANEOUS, MULTILOCUS FISH ANALYSIS FOR DETECTION OF MICRODELETIONS IN THE DIAGNOSTIC EVALUATION OF DEVELOPMENTAL DELAY AND MENTAL-RETARDATION

      American journal of human genetics
    84. PAGE SL; SHIN JC; HAN JY; CHOO KHA; SHAFFER LG
      BREAKPOINT DIVERSITY ILLUSTRATES DISTINCT MECHANISMS FOR ROBERTSONIANTRANSLOCATION FORMATION

      Human molecular genetics
    85. ROA BB; GREENBERG F; GUNARATNE P; SAUER CM; LUBINSKY MS; KOZMA C; MECK JM; MAGENIS RE; SHAFFER LG; LUPSKI JR
      DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE-1A NEUROPATHY

      Human genetics
    86. SHAFFER LG; MCCASKILL C; HERSH JH; GREENBERG F; LUPSKI JR
      A CLINICAL AND MOLECULAR STUDY OF MOSAICISM FOR TRISOMY-17

      Human genetics
    87. SHAFFER LG; LANGLOIS S; MCCASKILL C; MAIN DM; ROBINSON WP; BARRETT IJ; KALOUSEK DK
      ANALYSIS OF 9 PREGNANCIES WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2

      Prenatal diagnosis
    88. SCHNEIDER AS; BISCHOFF FZ; MCCASKILL C; COADY ML; STOPFER JE; SHAFFER LG
      COMPREHENSIVE 4-YEAR FOLLOW-UP ON A CASE OF MATERNAL HETERODISOMY FORCHROMOSOME-16

      American journal of medical genetics
    89. WALTER CA; SHAFFER LG; KAYE CI; HUFF RW; GHIDONI PD; MCCASKILL C; MCFARLAND MB; MOORE CM
      SHORT-LIMB DWARFISM AND HYPERTROPHIC CARDIOMYOPATHY IN A PATIENT WITHPATERNAL ISODISOMY-14 - 45,XY,IDIC(14)(P11)

      American journal of medical genetics
    90. POTOCKI L; SHAFFER LG
      INTERSTITIAL DELETION OF 11 (P11.2P12) - A NEWLY DESCRIBED CONTIGUOUSGENE DELETION SYNDROME INVOLVING THE GENE FOR HEREDITARY MULTIPLE EXOSTOSES (EXT2)

      American journal of medical genetics
    91. HEGMANN KM; SPIKES AS; ORRURTREGER A; SHAFFER LG
      SEGREGATION OF A PATERNAL INSERTIONAL TRANSLOCATION RESULTS IN PARTIAL 4Q-MONOSOMY OR 4Q-TRISOMY IN 2 SIBLINGS

      American journal of medical genetics
    92. SHAFFER LG; SPIKES AS; MACHA M; DUNN R
      IDENTIFICATION OF A SUBTLE CHROMOSOMAL TRANSLOCATION IN A FAMILY WITHRECURRENT MISCARRIAGES AND A CHILD WITH MULTIPLE CONGENITAL-ANOMALIES- A CASE-REPORT

      Journal of reproductive medicine
    93. AYALAMADRIGAL ML; SHAFFER LG; RAMIREZDUENAS ML
      SILVER-RUSSELL SYNDROME AND EXCLUSION OF UNIPARENTAL DISOMY

      Clinical genetics
    94. BARTSCH O; WUYTS W; VANHUL W; HECHT JT; MEINECKE P; HOGUE D; WERNER W; ZABEL B; HINKEL GK; POWELL CM; SHAFFER LG; WILLEMS PJ
      DELINEATION OF A CONTIGUOUS GENE SYNDROME WITH MULTIPLE EXOSTOSES, ENLARGED PARIETAL FORAMINA, CRANIOFACIAL DYSOSTOSIS, AND MENTAL-RETARDATION, CAUSED BY DELETIONS ON THE SHORT ARM OF CHROMOSOME-11

      American journal of human genetics
    95. BISCHOFF FZ; FELDMAN GL; MCCASKILL C; SUBRAMANIAN S; HUGHES MR; SHAFFER LG
      SINGLE-CELL ANALYSIS DEMONSTRATING SOMATIC MOSAICISM INVOLVING 11P INA PATIENT WITH PATERNAL ISODISOMY AND BECKWITH-WIEDEMANN SYNDROME

      Human molecular genetics
    96. PAGE SL; EARNSHAW WC; CHOO KHA; SHAFFER LG
      FURTHER EVIDENCE THAT CENP-C IS A NECESSARY COMPONENT OF ACTIVE CENTROMERES - STUDIES OF A DIC(X-15) WITH SIMULTANEOUS IMMUNOFLUORESCENCE AND FISH

      Human molecular genetics
    97. FLETCHER FA; HUEBNER K; SHAFFER LG; FAIRWEATHER ND; MONACO AP; MULLER U; DRUCK T; SIMONEAUX DK; CHELLY J; BELMONT JW; BECKMANN MP; LYMAN SD
      ASSIGNMENT OF THE GENE (EPLG2) ENCODING A HIGH-AFFINITY BINDING-PROTEIN FOR THE RECEPTOR TYROSINE KINASE ELK TO A 200-KILOBASEPAIR REGION IN HUMAN-CHROMOSOME XQ12

      Genomics
    98. BISCHOFF FZ; NGUYEN DD; BURT KJ; SHAFFER LG
      ESTIMATES OF ANEUPLOIDY USING MULTICOLOR FLUORESCENCE IN-SITU HYBRIDIZATION ON HUMAN SPERM (VOL 66, PG 237, 1994)

      Cytogenetics and cell genetics
    99. SHAFFER LG; MCCASKILL C; HAN JY; CUTILLO DM; DONNENFELD AE; WEISS L; VANDYKE DL
      MOLECULAR CHARACTERIZATION OF DE-NOVO SECONDARY TRISOMY-13

      Cytogenetics and cell genetics
    100. BISCHOFF FZ; ZENGERHAIN J; VANDYKE DL; SHAFFER LG
      CONFINED PLACENTAL MOSAICISM FOR TRISOMY-12 IN CVS WITH VARYING OUTCOMES

      Cytogenetics and cell genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 08:53:19