Przemysław Szafrański: search on Z-Library

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1

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

Tian, Xiao-Li, Kadaba, Rajkumar, You, Sun-Ah, Liu, Mugen, Timur, Ayse Anil, Yang, Lin, Chen, Qiuyun, Szafranski, Przemyslaw, Rao, Shaoqi, Wu, Ling

Journal:

Year:

2004

Language:

english

File:

PDF, 718 KB

english, 2004

2

Fluorescent 1,2,3-triazole derivative of 3′-deoxy-3-azidothymidine: synthesis and absorption/emission spectra

Szafrański, Przemysław W., Kasza, Patryk, Kępczyński, Mariusz, Cegła, Marek T.

Journal:

Heterocyclic Communications

Year:

2015

Language:

english

File:

PDF, 510 KB

english, 2015

3

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

4

A New Approach for Containment of Microorganisms: Dual Control of Streptavidin Expression by Antisense RNA and the T7 Transcription System

Przemyslaw Szafranski, Charlene M. Mello, Takeshi Sano, Cassandra L. Smith, David L. Kaplan and Charles R. Cantor

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 813 KB

english, 1997

5

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V., Akdemir, Kadir Caner, Jhangiani, Shalini N., Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A., Sebastian, Jessica, Madan-Kh

Journal:

Year:

2016

Language:

english

File:

PDF, 5.10 MB

english, 2016

6

Utilin B, a tetranortriterpenoid of the mexicanolide group from bark of Entandrophragma utile

Włodzimierz M. Daniewski, Maria Gumułka, Witold Danikiewicz, Przemysław Gluziński, Janusz Krajewski, Elżbieta Pankowska, Elżbieta Błoszyk, Ulla Jacobsson, Torbjorn Norin, Ferdynand Szafranski

Journal:

Year:

1993

Language:

english

File:

PDF, 270 KB

english, 1993

7

In situ detection of tandem DNA repeat length

Ron Yaar, Przemyslaw Szafranski, Charles R. Cantor, Cassandra L. Smith

Journal:

Genetic Analysis: Biomolecular Engineering

Year:

1996

Language:

english

File:

PDF, 764 KB

english, 1996

8

Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Szafranski, Przemyslaw, Yang, Yaping, Nelson, Melissa U., Bizzarro, Matthew J., Morotti, Raffaella A., Langston, Claire, Stankiewicz, Paweł

Journal:

Year:

2013

Language:

english

File:

PDF, 558 KB

english, 2013

9

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

Witsch, Jens, Szafranski, Przemyslaw, Chen, Chun-An, Immken, LaDonna, Simpson Patel, Gayle, Hixson, Patricia, Cheung, Sau Wai, Stankiewicz, Pawel, Schaaf, Christian P

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 379 KB

english, 2013

10

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Ro

Journal:

Year:

2017

Language:

english

File:

PDF, 381 KB

english, 2017

11

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

Szafranski, Przemyslaw, Golla, Sailaja, Jin, Weihong, Fang, Ping, Hixson, Patricia, Matalon, Reuben, Kinney, Daniel, Bock, Hans-georg, Craigen, William, Smith, Janice L, Bi, Weimin, Patel, Ankita, Wai

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 849 KB

english, 2015

12

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia

Pradhan, Arun, Dunn, Andrew, Ustiyan, Vladimir, Bolte, Craig, Wang, Guolun, Whitsett, Jeffrey A, Zhang, Yufang, Porollo, Alexey, Hu, Yueh-Chiang, Xiao, Rui, Szafranski, Przemyslaw, Shi, Donglu, Stanki

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2019

Language:

english

File:

PDF, 8.98 MB

english, 2019

13

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Le

Journal:

Year:

2019

Language:

english

File:

PDF, 1.76 MB

english, 2019

14

A tetranortriterpenoid from the bark of Entandrophragma utile

Wlodzimierz M. Daniewski, Maria Gumulka, Witold Danikiewicz, Przemyslaw Gluziński, Janusz Krajewski, Jerzy Sitkowski, Elżbieta Błoszyk, Bohdan Drożdż, Ulla Jacobsson, Ferdynand Szafrański

Journal:

Year:

1994

Language:

english

File:

PDF, 297 KB

english, 1994

15

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Lalani, Seema R, Shaw, Chad, Wang, Xueqing, Patel, Ankita, Patterson, Lance W, Kolodziejska, Katarzyna, Szafranski, Przemyslaw, Ou, Zhishuo, Tian, Qi, Kang, Sung-Hae L, Jinnah, Amina, Ali, Sophia, Mal

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 423 KB

english, 2013

16

Eucharitidae (Hymenoptera), a chalcid wasp family new to the fauna of Poland

Szafranski, Przemyslaw

Journal:

Polish Journal of Entomology / Polskie Pismo Entomologiczne

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

17

Fluorescent triazolyl spirooxazolidines: Synthesis and NMR stereochemical studies

Kasza, Patryk, Trybula, Marcela E., Baradziej, Katarzyna, Kepczynski, Mariusz, Szafrański, Przemysław W., Cegła, Marek T.

Journal:

Journal of Molecular Structure

Year:

2019

Language:

english

File:

PDF, 3.43 MB

english, 2019

18

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

Reiter, Joel, Szafranski, Przemyslaw, Breuer, Oded, Perles, Zeev, Dagan, Tamir, Stankiewicz, Paweł, Kerem, Eitan

Journal:

Pediatric Pulmonology

Year:

2016

Language:

english

File:

PDF, 266 KB

english, 2016

19

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression

Dharmadhikari, Avinash V., Sun, Jenny J., Gogolewski, Krzysztof, Carofino, Brandi L., Ustiyan, Vladimir, Hill, Misty, Majewski, Tadeusz, Szafranski, Przemyslaw, Justice, Monica J., Ray, Russell S., Di

Journal:

Year:

2016

Language:

english

File:

PDF, 5.48 MB

english, 2016

20

Cloning and analysis of the dnaG gene encoding Pseudomonas putida DNA primase

Przemyslaw Szafranski, Cassandra L Smith, Charles R Cantor

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

1997

Language:

english

File:

PDF, 692 KB

english, 1997

21

Role of metal ions in the assembly and decay of the transcription initiation complex on tRNA gene in yeast extracts

Przemysław Szafrański, W.Jerzy Smagowicz

Journal:

Year:

1991

Language:

english

File:

PDF, 304 KB

english, 1991

22

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sa

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.53 MB

english, 2017

23

Chromosome conformation capture-on-chip analysis of long-rangecis-interactions of theSOX9promoter

Smyk, Marta, Szafranski, Przemyslaw, Startek, Michał, Gambin, Anna, Stankiewicz, Paweł

Journal:

Chromosome Research

Year:

2013

Language:

english

File:

PDF, 397 KB

english, 2013

24

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Lupski, James R., Popek, Ed

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 3.25 MB

2019

25

The Effect of Magnesium-Ion Concentration on the Translation of Phage-f2 RNA in a Cell-Free System of Escherichia coli

Włodzimierz Zagórski, Witold Filipowicz, Aleksandra Wodnar, Andrzej Leonowicz, Ludwika Zagórska, Przemysław Szafrański

Journal:

Year:

1972

Language:

english

File:

PDF, 701 KB

english, 1972

26

Cardiovascular activity of the chiral xanthone derivatives

Szkaradek, Natalia, Rapacz, Anna, Pytka, Karolina, Filipek, Barbara, Żelaszczyk, Dorota, Szafrański, Przemysław, Słoczyńska, Karolina, Marona, Henryk

Journal:

Bioorganic & Medicinal Chemistry

Year:

2015

Language:

english

File:

PDF, 1.24 MB

english, 2015

27

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

Vincent, Marie, Karolak, Justyna A, Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

2019

File:

PDF, 1.20 MB

2019

28

The Effect of Modification of Cytosines in Escherichia coli 16-S rRNA on Reconstitution and Function of 30-S Ribosomes

Andrzej WREDEE, Stanislaw PERZYŃSKI, Stefan KLITA, Ludwika ZAGÓRSKA, Przemyslaw SZAFRAŃSKI

Journal:

Year:

1977

Language:

english

File:

PDF, 471 KB

english, 1977

29

Fractionation of d(A-T) polymer from testes of Cancer borealis

Brzezinski, Andrzej, Szafranski, Przemyslaw, Johnson, Paul Hickok, Laskowski, Michael

Journal:

Year:

1969

Language:

english

File:

PDF, 943 KB

english, 1969

30

Basolateral junctions are sufficient to suppress epithelial invasion during Drosophila oogenesis

Przemyslaw Szafranski, Scott Goode

Journal:

Developmental Dynamics

Year:

2007

Language:

english

File:

PDF, 1.48 MB

english, 2007

31

Haploinsufficiency of the E3 ubiquitin-protein ligase geneTRIP12causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Ro

Journal:

Year:

2017

Language:

english

File:

PDF, 1.38 MB

english, 2017

32

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

Towe, Christopher T., White, Frances V., Grady, R. Mark, Sweet, Stuart C., Eghtesady, Pirooz, Wegner, Daniel J., Sen, Partha, Szafranski, Przemyslaw, Stankiewicz, Pawel, Hamvas, Aaron, Cole, F. Sessio

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 776 KB

english, 2017

33

Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary

Julie H.Y Huang, Aleksandar Rajkovic, Przemyslaw Szafranski, Scott Ochsner, JoAnne Richards, Scott Goode

Journal:

Gene Expression Patterns

Year:

2003

Language:

english

File:

PDF, 1.39 MB

english, 2003

34

6q22.1 microdeletion and susceptibility to pediatric epilepsy

Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

35

Hypersensitive mung bean nuclease cleavage sitesin Plasmodium knowlesi DNA

Szafrański, Przemyslaw, Godson, G.Nigel

Journal:

Year:

1990

Language:

english

File:

PDF, 652 KB

english, 1990

36

The mitochondrial trn–cox1 locus: Rapid evolution in Pompilidae and evidence of bias in cox1 initiation and termination codon usage

Szafranski, Przemyslaw

Journal:

Mitochondrial DNA

Year:

2009

Language:

english

File:

PDF, 1.54 MB

english, 2009

37

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9 , identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

Smyk, Marta, Roeder, Elizabeth, Cheung, Sau Wai, Szafranski, Przemyslaw, Stankiewicz, Paweł

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 3.68 MB

english, 2015

38

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

Szafranski, Przemyslaw, Coban-Akdemir, Zeynep H., Rupps, Rosemarie, Grazioli, Serge, Wensley, David, Jhangiani, Shalini N., Popek, Edwina, Lee, Anna F., Lupski, James R., Boerkoel, Cornelius F., Stank

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 1.11 MB

english, 2016

39

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region

Szafranski, Przemyslaw, Karolak, Justyna A., Lanza, Denise, Gajęcka, Marzena, Heaney, Jason, Stankiewicz, Paweł

Journal:

Mammalian Genome

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

40

Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems

Melissa B. Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, Katarzyna E. Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodriguez, Charles A. Williams, Patricia I. Bader, Elżbiet

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 737 KB

english, 2010

41

Narrowing theFOXF1distant enhancer region on 16q24.1 critical for ACDMPV

Szafranski, Przemyslaw, Herrera, Carmen, Proe, Lori A., Coffman, Brittany, Kearney, Debra L., Popek, Edwina, Stankiewicz, Paweł

Journal:

Clinical Epigenetics

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

42

A New Mutation in the KvLQT1 Gene Resulting in a Large Spectrum of Phenotypic Variability

Flippin, Mindee, Szafranski, Przemyslaw, Canter, Charles, Bromberg, Burt, Lindsay, Bruce, Zimmerman, Frank

Journal:

Pediatric Research

Year:

1999

File:

PDF, 70 KB

1999

43

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema Lalani, Lorraine Potocki, Sung-Hae Kang, Ank

Journal:

Year:

2010

Language:

english

File:

PDF, 511 KB

english, 2010

44

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.49 MB

english, 2014

45

Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa

Szafranski, Przemyslaw

Journal:

Year:

2017

Language:

english

File:

PDF, 2.90 MB

english, 2017

46

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Wambach, Jennifer A., Towe, Chris T., White, Frances V., Grady, R. Mark, Eghtesady, Pirooz, Cole, F. Sessions, Deutsch, Gail, Sen, Partha, Stankiewic

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.84 MB

english, 2014

47

Molecular and clinical analyses of 16q24.1 duplications involvingFOXF1identify an evolutionarily unstable large minisatellite

Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja,

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 2.62 MB

english, 2014

48

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Prothro, Stephanie L., Plosa, Erin, Markham, Melinda, Szafranski, Przemyslaw, Stankiewicz, Pawel, Killen, Stacy A.S.

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 118 KB

english, 2016

49

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Karolak, Justyna A., Szafranski, Przemyslaw, Kilner, David, Patel, Chirag, Scurry, Bonnie, Kinning, Esther, Chandler, Kate, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Lupski, James R., Popek, Ed

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 3.25 MB

english, 2019

50

Intercompartmental Piecewise Gene Transfer

Szafranski, Przemyslaw

Journal:

Year:

2017

Language:

english

File:

PDF, 814 KB

english, 2017

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