Misceo, D.: search on Z-Library

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1

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

Sumathipala, Dulika, StrÃ¸mme, Petter, Gilissen, Christian, Einarsen, Ingunn Holm, BjÃ¸rndalen, Hilde J., Server, AndrÃ©s, Corominas, Jordi, Hassel, BjÃ¸rnar, Fannemel, Madeleine, Misceo, Doriana, Fre

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 1.05 MB

2020

2

AGAIN, KNOWLEDGE OF COMMON SOURCE FAILS TO PROMOTE VISUAL-HAPTIC INTEGRATION 1 , 2

Misceo, Giovanni F., Jackson, Sarju V. S., Perdue, Jessica R.

Journal:

Perceptual and Motor Skills

Year:

2014

Language:

english

File:

PDF, 277 KB

english, 2014

3

Haploinsufficiency of two histone modifier genes on 6p22.3,ATXN1andJARID2, is associated with intellectual disability

Tuva Barøy, Doriana Misceo, Petter Strømme…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

4

Apparent movement in phenomenal space

Giovanni F. Misceo, Thaddeus M. Cowan

Journal:

Attention, Perception, & Psychophysics

Year:

1983

Language:

english

File:

PDF, 719 KB

english, 1983

5

Size scaling in two-dimensional pictorial arrays

John Uhlarik, Richard Pringle, Kevin Jordan, Giovanni Misceo

Journal:

Attention, Perception, & Psychophysics

Year:

1980

Language:

english

File:

PDF, 1.23 MB

english, 1980

6

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M. E., Tzoulis, Charalampos, Sp

Journal:

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

7

Quality of life and illness behaviour in chronic daily headache patients

Maria Pia Prudenzano, Mario Guazzelli, Anna Pia Verri, Salvatore Misceo, Vittorio Sciruicchio, Giuseppe Libro

Journal:

The Journal of Headache and Pain

Year:

2000

Language:

english

File:

PDF, 141 KB

english, 2000

8

Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX 3 Expression

Helle, Johan Robert, Barøy, Tuva, Misceo, Doriana, Braaten, Øivind, Fannemel, Madeleine, Frengen, Eirik

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 1.34 MB

english, 2013

9

Molecular evolution of the human chromosome 15 pericentromeric region

Locke, D.P., Jiang, Z., Pertz, L.M., Misceo, D., Archidiacono, N., Eichler, E.E.

Journal:

Cytogenetic and Genome Research

Year:

2005

Language:

english

File:

PDF, 310 KB

english, 2005

10

Analysis of energy performances of a nZEB kindergarten building in Bisceglie (Apulia region)

Misceo, M, Peralta, L, Angelillo, S, Stefanizzi, P

Journal:

IOP Conference Series Materials Science and Engineering

Year:

2019

File:

PDF, 654 KB

2019

11

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features

Floor, Karijn, Barøy, Tuva, Misceo, Doriana, Kanavin, Øivind J., Fannemel, Madeleine, Frengen, Eirik

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 699 KB

english, 2012

12

Comparison of numerical and experimental performances of nZEB residential building in Putignano (Apulia Region)

Altobello, A, Misceo, M, Russo, P, Stefanizzi, P, Vignola, I

Journal:

IOP Conference Series Materials Science and Engineering

Year:

2019

File:

PDF, 712 KB

2019

13

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

Doriana Misceo, Kathrine Bjørgo, Eli Ormerod, Øyvind Ringen, Mariano Rocchi, Carl Birger van der Hagen, Eirik Frengen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 207 KB

english, 2008

14

1.5 Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development

D. Misceo, T. Barøy, J.R. Helle, Ø. Braaten, M. Fannemel, E. Frengen

Journal:

Year:

2012

Language:

english

File:

PDF, 910 KB

english, 2012

15

THE VITAL STATISTICS OF EGYPT.

Floor, Karijn, Barøy, Tuva, Misceo, Doriana, Kanavin, Øivind J., Fannemel, Madeleine, Frengen, Eirik

Journal:

Year:

1903

Language:

english

File:

PDF, 339 KB

english, 1903

16

Tracking the complex flow of chromosome rearrangements from the Hominoidea Ancestor to extant Hylobates and Nomascus Gibbons by high-resolution synteny mapping

Misceo, D., Capozzi, O., Roberto, R., Dell'Oglio, M. P., Rocchi, M., Stanyon, R., Archidiacono, N.

Journal:

Genome Research

Year:

2008

Language:

english

File:

PDF, 877 KB

english, 2008

17

SPIE Proceedings [SPIE Optics East - Philadelphia, PA (Monday 25 October 2004)] Environmentally Conscious Manufacturing IV - eVerdEE: a web-based screening life-cycle assessment tool for European small and medium-sized enterprises

Naldesi, Luciano, Buttol, Patrizia, Masoni, Paolo, Misceo, Monica, Sßra, Balßzs, Gupta, Surendra M.

Year:

2004

Language:

english

File:

PDF, 681 KB

english, 2004

18

A satellite-like sequence, representing a “clone gap” in the human genome, was likely involved in the seeding of a novel centromere in macaque

Lucia Carbone, Pietro D’addabbo, Maria Francesca Cardone, Maria Grazia Teti, Doriana Misceo, Gery M. Vessere, Pieter J. de Jong, Mariano Rocchi

Journal:

Year:

2009

Language:

english

File:

PDF, 271 KB

english, 2009

19

O14: Evolutionary centromere repositioning

Mario Ventura, Maria F. Cardone, Francesca Antonacci, Doriana Misceo, Pietro D. Addabbo, Nicoletta Archidiacono, Mariano Rocchi

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 35 KB

english, 2005

20

SPIE Proceedings [SPIE Optics East - Philadelphia, PA (Monday 25 October 2004)] Environmentally Conscious Manufacturing IV - Life Cycle Assessment as a tool for water management optimization in textile finishing industry

Tarantini, Mario, Scalbi, Simona, Misceo, Monica, Verit, Simona, Gupta, Surendra M.

Year:

2004

Language:

english

File:

PDF, 206 KB

english, 2004

21

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

Skauli, Nadia, Wallace, Sean, Chiang, Samuel, Barøy, Tuva, Holmgren, Asbjørn, Stray-Pedersen, Asbjørg, Bryceson, Yenan, Strømme, Petter, Frengen, Eirik, Misceo, Doriana

Journal:

Year:

2016

Language:

english

File:

PDF, 1.50 MB

english, 2016

22

TBCK encephaloneuropathy with abnormal lysosomal storage: use of a structural variant bioinformatics pipeline on WGS data unravels a 20-year-old clinical mystery

Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Corominas, Jordi, Frengen, Eirik, Misceo, Doriana

Journal:

Pediatric Neurology

Year:

2019

Language:

english

File:

PDF, 425 KB

english, 2019

23

Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

Devin P Locke, Nicoletta Archidiacono, Doriana Misceo…

Journal:

Year:

2003

Language:

english

File:

PDF, 570 KB

english, 2003

24

Evolutionary History of Chromosome 20

Journal:

Molecular Biology and Evolution

Year:

2004

Language:

english

File:

PDF, 352 KB

english, 2004

25

History of Psychology: XXXIII. On Textbook Lessons from History, or How the Conditioned Reflex Discovered Twitmyer

Misceo, Giovanni, Samelson, Franz

Journal:

Psychological Reports

Year:

1983

Language:

english

File:

PDF, 350 KB

english, 1983

26

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, E

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 1.57 MB

2020

27

A de novo 2.3Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl

Belengeanu, V., Gamage, T.H., Farcas, S., Stoian, M., Andreescu, N., Belengeanu, A., Frengen, E., Misceo, D.

Journal:

Year:

2014

Language:

english

File:

PDF, 670 KB

english, 2014

28

P1357SODIIUM BICARBONATE CAN REPLACE THE HEPARIN AS âCATHETER LOCK SOLUTIONâ OF CENTRAL CATHETERS (CVC) FOR HEMODIALYSIS (HD)?

Corciulo, Roberto, Zazzera, Pierfelice, Misceo, Fernanda, Corciulo, Simone, Lomonte, Carlo, Libutti, Pasquale

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 95 KB

2020

29

SCA27 caused by a chromosome translocation: further delineation of the phenotype

D. Misceo, M. Fannemel, T. Barøy, R. Roberto, B. Tvedt, T. Jæger, V. Bryn, P. Strømme, E. Frengen

Journal:

Year:

2009

Language:

english

File:

PDF, 133 KB

english, 2009

30

Primate chromosome evolution: Ancestral karyotypes, marker order and neocentromeres

R. Stanyon, M. Rocchi, O. Capozzi, R. Roberto, D. Misceo, M. Ventura, M. F. Cardone, F. Bigoni, N. Archidiacono

Journal:

Chromosome Research

Year:

2008

Language:

english

File:

PDF, 938 KB

english, 2008

31

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay

Carlsen, Ellen Ø., Frengen, Eirik, Fannemel, Madeleine, Misceo, Doriana

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 2.58 MB

english, 2015

32

Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay

Pedurupillay, C.R.J., Misceo, D., Gamage, T.H., Dissanayake, V.H.W., Frengen, E.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.55 MB

english, 2014

33

Investigation into the Coupling of Micro Gas Turbines with CSP Technology: OMSoP Project

Lanchi, M., Montecchi, M., Crescenzi, T., Mele, D., Miliozzi, A., Russo, V., Mazzei, D., Misceo, M., Falchetta, M., Mancini, R.

Journal:

Energy Procedia

Year:

2015

Language:

english

File:

PDF, 875 KB

english, 2015

34

Touch Precision Modulates Visual Bias

Misceo, Giovanni F., Jones, Maurice D.

Journal:

Journal of Motor Behavior

Year:

2017

Language:

english

File:

PDF, 367 KB

english, 2017

35

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

Selmer, Kaja K, Gilfillan, Gregor D, Strømme, Petter, Lyle, Robert, Hughes, Timothy, Hjorthaug, Hanne S, Brandal, Kristin, Nakken, Sigve, Misceo, Doriana, Egeland, Thore, Munthe, Ludvig A, Braekken, S

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 419 KB

english, 2012

36

Human-Specific Duplication and Mosaic Transcripts: The Recent Paralogous Structure of Chromosome 22

Jeffrey A. Bailey, Amy M. Yavor, Luigi Viggiano, Doriana Misceo, Juliann E. Horvath, Nicoletta Archidiacono, Stuart Schwartz, Mariano Rocchi, Evan E. Eichler

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 315 KB

english, 2002

37

Divergent Origins and Concerted Expansion of Two Segmental Duplications on Chromosome 16

Eichler, E. E., Johnson, M. E., Alkan, C., Tuzun, E., Sahinalp, C., Misceo, D., Archidiacono, N., Rocchi, M.

Journal:

Journal of Heredity

Year:

2001

Language:

english

File:

PDF, 284 KB

english, 2001

38

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

Pedurupillay, Christeen, Landsend, Erlend, Vigeland, Magnus, Ansar, Muhammad, Frengen, Eirik, Misceo, Doriana, Strømme, Petter

Journal:

Year:

2016

Language:

english

File:

PDF, 1.89 MB

english, 2016

39

Refinement of macaque synteny arrangement with respect to the official rheMac2 macaque sequence assembly

Roberta Roberto, Doriana Misceo, Pietro D’Addabbo, Nicoletta Archidiacono, Mariano Rocchi

Journal:

Chromosome Research

Year:

2008

Language:

english

File:

PDF, 464 KB

english, 2008

40

Evolutionary movement of centromeres in horse, donkey, and zebra

Lucia Carbone, Solomon G. Nergadze, Elisa Magnani, Doriana Misceo, Maria Francesca Cardone, Roberta Roberto, Livia Bertoni, Carmen Attolini, Maria Francesca Piras, Pieter de Jong, Terje Raudsepp, Bhan

Journal:

Year:

2006

Language:

english

File:

PDF, 246 KB

english, 2006

41

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy

Gamage, Thilini H., Misceo, Doriana, Fannemel, Madeleine, Frengen, Eirik

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 794 KB

english, 2013

42

Evolutionary history of chromosome 11 featuring four distinct centromere repositioning events in Catarrhini

Maria Francesca Cardone, Mariana Lomiento, Maria Grazia Teti, Doriana Misceo, Roberta Roberto, Oronzo Capozzi, Pietro D'Addabbo, Mario Ventura, Mariano Rocchi, Nicoletta Archidiacono

Journal:

Year:

2007

Language:

english

File:

PDF, 586 KB

english, 2007

43

Vaporization of the prototypical ionic liquid BMImNTf2 under equilibrium conditions: a multitechnique study

Brunetti, Bruno, Ciccioli, Andrea, Gigli, Guido, Lapi, Andrea, Misceo, Nicolaemanuele, Tanzi, Luana, Vecchio Ciprioti, Stefano

Journal:

Physical Chemistry Chemical Physics

Year:

2014

Language:

english

File:

PDF, 1.27 MB

english, 2014

44

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

Hladilkova, Eva, Barøy, Tuva, Fannemel, Madeleine, Vallova, Vladimira, Misceo, Doriana, Bryn, Vesna, Slamova, Iva, Prasilova, Sarka, Kuglik, Petr, Frengen, Eirik

Journal:

Molecular Cytogenetics

Year:

2015

Language:

english

File:

PDF, 2.18 MB

english, 2015

45

SPIE Proceedings [SPIE Optics East - Philadelphia, PA (Monday 25 October 2004)] Environmentally Conscious Manufacturing IV - TESPI (Tool for Environmental Sound Product Innovation): a simplified software tool to support environmentally conscious design in SMEs

Misceo, Monica, Buonamici, Roberto, Buttol, Patrizia, Naldesi, Luciano, Grimaldi, Filomena, Rinaldi, Caterina, Gupta, Surendra M.

Year:

2004

Language:

english

File:

PDF, 399 KB

english, 2004

46

Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

Doriana Misceo, Karen Helene Ørstavik, Helle Lybæk, Inger Sandvig, Eli Ormerod, Gunnar Houge, Eirik Frengen

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 178 KB

english, 2009

47

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22

Doriana Misceo, Mariano Rocchi, Carl Birger van der Hagen, Eirik Frengen

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 110 KB

english, 2009

48

Touch dominates haptic estimates of discordant visual-haptic size

Wayne A. Hershberger, Giovanni F. Misceo

Journal:

Attention, Perception, & Psychophysics

Year:

1996

Language:

english

File:

PDF, 1.12 MB

english, 1996

49

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

D. Misceo, O.K. Rødningen, T. Barøy, H. Sorte, J.R. Mellembakken, P. Strømme, M. Fannemel, E. Frengen

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 581 KB

english, 2011

50

A conditioned weight illusion: Reafference learning without a correlation store

Wayne Hershberger, Giovanni Misceo

Journal:

Attention, Perception, & Psychophysics

Year:

1983

Language:

english

File:

PDF, 1018 KB

english, 1983

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