Lupski, R.L.: search on Z-Library

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1

Structural Variation in the Human Genome and its Role in Disease

Stankiewicz, Paweł, Lupski, James R.

Journal:

Annual Review of Medicine

Year:

2010

Language:

english

File:

PDF, 482 KB

english, 2010

2

Bacterial Genomes || Structure and Sizes of Genomes of the Archaea and Bacteria

de Bruijn, Frans J., Lupski, James R., Weinstock, George M.

Year:

1998

Language:

english

File:

PDF, 790 KB

english, 1998

3

Genome Mosaicism--One Human, Multiple Genomes

Journal:

Year:

2013

Language:

english

File:

PDF, 295 KB

english, 2013

4

Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

Claudia Soler-Alfonso, Kathleen J. Motil, Catherine L. Turk, Patricia Robbins-Furman, Ellen M. Friedman, Feng Zhang, James R. Lupski, J. Kennard Fraley, Lorraine Potocki

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 1.11 MB

english, 2011

5

Genome architecture, rearrangements and genomic disorders

Pawel Stankiewicz, James R. Lupski

Journal:

Trends in Genetics

Year:

2002

Language:

english

File:

PDF, 157 KB

english, 2002

6

Bacterial Genomes || Repetitive Sequence-based PCR (rep-PCR) DNA Fingerprinting of Bacterial Genomes

de Bruijn, Frans J., Lupski, James R., Weinstock, George M.

Year:

1998

Language:

english

File:

PDF, 1.97 MB

english, 1998

7

CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis

Chen, L., Zhou, W., Zhang, C., Lupski, J. R., Jin, L., Zhang, F.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 504 KB

english, 2015

8

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

James M. Killian, Pinky S. Tiwari, Sheila Jacobson, Robert D. Jackson, James R. Lupski

Journal:

Year:

1996

Language:

english

File:

PDF, 430 KB

english, 1996

9

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

Amparo Gutierrez, John D. England, Austin J. Sumner, Scott Ferer, Laura E. Warner, James R. Lupski, Carlos A. Garcia

Journal:

Year:

2000

Language:

english

File:

PDF, 260 KB

english, 2000

10

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Hiroshi Takashima, Cornelius F. Boerkoel, Peter De Jonghe, Chantal Ceuterick, Jean-Jacques Martin, Thomas Voit, J.-Michael Schröder, Anna Williams, Peter J. Brophy, Vincent Timmerman, James R. Lupski

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 900 KB

english, 2002

11

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev, Feng Zhang, Claudia M. B. Carvalho, Christian P. Schaaf, Ronald Richman, Ping Fang, Daniel G. Glaze, James R. Lupski, Huda Y. Zoghbi

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 346 KB

english, 2009

12

Evaluation of distal symmetric polyneuropathy: The role of laboratory and genetic testing (an evidence-based review)

J.D. England, G.S. Gronseth, G. Franklin, G.T. Carter, L.J. Kinsella, J.A. Cohen, A.K. Asbury, K. Szigeti, J.R. Lupski, N. Latov, R.A. Lewis, P.A. Low, M.A. Fisher, D. Herrmann, J.F. Howard, G. Lauria

Journal:

Year:

2009

Language:

english

File:

PDF, 142 KB

english, 2009

13

Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review)

J.D. England, G.S. Gronseth, G. Franklin, G.T. Carter, L.J. Kinsella, J.A. Cohen, A.K. Asbury, K. Szigeti, J.R. Lupski, N. Latov, R.A. Lewis, P.A. Low, M.A. Fisher, D. Herrmann, J.F. Howard, G. Lauria

Journal:

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

14

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

Fumiaki Toki, Norio Suzuki, Ken Inoue, Makoto Suzuki, Kyoko Hirakata, Kyoko Nagai, Minoru Kuroiwa, JamesR. Lupski, Yoshiaki Tsuchida

Journal:

Pediatric Surgery International

Year:

2003

Language:

english

File:

PDF, 672 KB

english, 2003

15

10.1038/71743

Lupski, James R., Potocki, Lorraine, Chen, Ken-Shiung, Park, Sung-Sup, Osterholm, Doreen E., Withers, Marjorie A., Kimonis, Virginia, Summers, Anne M., Meschino, Wendy S., Anyane-Yeboa, Kwame, Kashork

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 284 KB

english, 2000

16

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

Zhang, Feng, Khajavi, Mehrdad, Connolly, Anne M, Towne, Charles F, Batish, Sat Dev, Lupski, James R

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 590 KB

english, 2009

17

Mechanisms of change in gene copy number

Hastings, P. J., Lupski, James R., Rosenberg, Susan M., Ira, Grzegorz

Journal:

Nature Reviews Genetics

Year:

2009

Language:

english

File:

PDF, 458 KB

english, 2009

18

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

Journal:

Trends in Genetics

Year:

1998

Language:

english

File:

PDF, 174 KB

english, 1998

19

Copy Number Variation in Human Health, Disease, and Evolution

Zhang, Feng, Gu, Wenli, Hurles, Matthew E., Lupski, James R.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2009

Language:

english

File:

PDF, 510 KB

english, 2009

20

MOLECULAR MECHANISMS FOR CONSTITUTIONAL CHROMOSOMAL REARRANGEMENTS IN HUMANS

Shaffer, Lisa G., Lupski, James R.

Journal:

Annual Review of Genetics

Year:

2000

Language:

english

File:

PDF, 220 KB

english, 2000

21

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies

W. Wiszniewski, C.M. Zaremba, A.N. Yatsenko, M. Jamrich, T.G. Wensel, R.A. Lewis, J.R. Lupski

Journal:

American Journal of Ophthalmology

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

22

Clan Genomics and the Complex Architecture of Human Disease

James R. Lupski, John W. Belmont, Eric Boerwinkle, Richard A. Gibbs

Journal:

Year:

2011

Language:

english

File:

PDF, 1.26 MB

english, 2011

23

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome

Sun, Z., Liu, P., Jia, X., Withers, M. A., Jin, L., Lupski, J. R., Zhang, F.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 221 KB

english, 2013

24

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

Dittwald, Piotr, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Carvalho, Claudia M.B., Lupski, James R., Stankiewicz, Paweł, Gambin, Anna

Journal:

Year:

2013

Language:

english

File:

PDF, 469 KB

english, 2013

25

Human Genome Sequencing in Health and Disease

Gonzaga-Jauregui, Claudia, Lupski, James R., Gibbs, Richard A.

Journal:

Annual Review of Medicine

Year:

2012

Language:

english

File:

PDF, 565 KB

english, 2012

26

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms

Zhou, W., Zhang, F., Chen, X., Shen, Y., Lupski, J. R., Jin, L.

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 391 KB

english, 2013

27

Blue-green algae (Cyanophyta) in marine coastal environments of the Sinai Peninsula; distribution, zonation, stratification and taxonomic diversity

Szigeti, Kinga, Shaw, Chad, Li, Yanchun, Lupski, James R., Belmont, John, Doody, Rachelle S.

Journal:

Deep Sea Research Part B. Oceanographic Literature Review

Year:

1980

Language:

english

File:

PDF, 94 KB

english, 1980

28

Ophthalmic Manifestations of Smith-Magenis Syndrome

Chen, Ronni M., Lupski, James R., Greenberg, Frank, Lewis, Richard Alan

Journal:

Year:

1996

Language:

english

File:

PDF, 4.44 MB

english, 1996

29

[Part 1: Biological Sciences] || Sequences of the Escherichia coli dnaG Primase Gene and Regulation of Its Expression

Bob L. Smiley, James R. Lupski, Pamela S. Svec, Roger McMacken and G. Nigel Godson

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.48 MB

english, 1982

30

COP9 Signalosome Subunit 3 Is Essential for Maintenance of Cell Proliferation in the Mouse Embryonic Epiblast

Yan, J., Walz, K., Nakamura, H., Carattini-Rivera, S., Zhao, Q., Vogel, H., Wei, N., Justice, M. J., Bradley, A., Lupski, J. R.

Journal:

Molecular and Cellular Biology

Year:

2003

Language:

english

File:

PDF, 1.00 MB

english, 2003

31

Somatic mosaicism: implications for disease and transmission genetics

Campbell, Ian M., Shaw, Chad A., Stankiewicz, Pawel, Lupski, James R.

Journal:

Trends in Genetics

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

32

Cognitive Phenotypes and Genomic Copy Number Variations

Lupski, James R.

Journal:

JAMA The Journal of the American Medical Association

Year:

2015

Language:

english

File:

PDF, 108 KB

english, 2015

33

Topical Review: Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]

Goldman, A. M., Potocki, L., Walz, K., Lynch, J. K., Glaze, D. G., Lupski, J. R., Noebels, J. L.

Journal:

Journal of Child Neurology

Year:

2006

Language:

english

File:

PDF, 197 KB

english, 2006

34

Molecular Mechanisms for Transposition of Drug-Resistance Genes and Other Movable Genetic Elements

Journal:

Clinical Infectious Diseases

Year:

1987

Language:

english

File:

PDF, 1.03 MB

english, 1987

35

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

Gherman, Adrian, Chen, Peter E., Teslovich, Tanya M., Stankiewicz, Pawel, Withers, Marjorie, Kashuk, Carl S., Chakravarti, Aravinda, Lupski, James R., Cutler, David J., Katsanis, Nicholas

Journal:

Year:

2007

Language:

english

File:

PDF, 950 KB

english, 2007

36

CAV3 mutation in a patient with transient hyperCKemia and myalgia

Macias, Anna, Gambin, Tomasz, Szafranski, Przemyslaw, Jhangiani, Shalini N., Kolasa, Anna, Obersztyn, Ewa, Lupski, James R., Stankiewicz, Pawel, Kaminska, Anna

Journal:

Polish Journal of Neurology and Neurosurgery / Neurologia i Neurochirurgia Polska

Year:

2016

Language:

english

File:

PDF, 972 KB

english, 2016

37

Phenotype expansion and development in Kosaki Overgrowth Syndrome

Gawliński, P., Pelc, M., Ciara, E., Jhangiani, S., Jurkiewicz, E., Gambin, T., Różdżyńska-Świątkowska, A., Dawidziuk, M., Akdemir, Z.H.C., Guilbride, D. Lys, Muzny, D., Lupski, J.R., Krajewska-Walasek

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.20 MB

english, 2017

38

The phenotypic spectrum of Xia-Gibbs syndrome

Jiang, Yunyun, Wangler, Michael F., McGuire, Amy L., Lupski, James R., Posey, Jennifer E., Khayat, Michael M., Murdock, David R., Sanchez-Pulido, Luis, Ponting, Chris P., Xia, Fan, Hunter, Jill V., Me

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 960 KB

english, 2018

39

Objective measures of sleep disturbances in children with Potocki–Lupski syndrome

Kaplan, Kevin, McCool, Caroline, Lupski, James R., Glaze, Daniel, Potocki, Lorraine

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 634 KB

2019

40

Wholeâgenome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

Plesser Duvdevani, Morasha, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 3.14 MB

2020

41

Short stature and growth hormone deficiency in a subset of patients with PotockiâLupski syndrome: Expanding the phenotype of PTLS

Franciskovich, Rachel, SolerâAlfonso, Claudia, NeiraâFresneda, Juanita, Lupski, James R., McCannâCrosby, Bonnie, Potocki, Lorraine

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1013 KB

2020

42

Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory

Shaffer, Lisa G., Kennedy, Gilbert M., Spikes, Aimee S., Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 224 KB

english, 1997

43

Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

Stockton, David W., Ross, Helen L., Bacino, Carlos A., Altman, Carolyn A., Shaffer, Lisa G., Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 376 KB

english, 1997

44

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

Wu, Yuan-Qing, Sutton, V. Reid, Nickerson, Elizabeth, Lupski, James R., Potocki, Lorraine, Korenberg, Julie R., Greenberg, Frank, Tassabehji, Mayada, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 313 KB

english, 1998

45

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1

Bejjani, Bassem A., Oberg, Kerby C., Wilkins, Isabelle, Moise, Alicia, Langston, Claire, Superti-Furga, Andrea, Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

46

Frank Greenberg, M.D. 1948-1998

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 67 KB

english, 1999

47

Prenatal diagnosis of Charcot–Marie–Tooth disease type 1A by interphase fluorescence in situ hybridization

Catherine D. Kashork, James R. Lupski, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 170 KB

english, 1999

48

Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease

Benjamin B. Roa, Laura E. Warner, Carlos A. Garcia, Donna Russo, Robert Lovelace, Phillip F. Chance, James R. Lupski

Journal:

Year:

1996

Language:

english

File:

PDF, 975 KB

english, 1996

49

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A

Laura E. Warner, Benjamin B. Roa, James R. Lupski

Journal:

Year:

1996

Language:

english

File:

PDF, 312 KB

english, 1996

50

Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case

Laura E. Warner, Mordechai Shohat, Zamir Shorer, James R. Lupski

Journal:

Year:

1997

Language:

english

File:

PDF, 149 KB

english, 1997

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