A Latos-Bielenska: search on Z-Library

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1

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Bieleńska, Anna, Phillips, Simon E V, Markham, Alexander F

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 607 KB

english, 2008

2

Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

Wijers, CHW, van Rooij, IALM, Bakker, MK, Marcelis, CLM, Addor, MC, Barisic, I, Béres, J, Bianca, S, Bianchi, F, Calzolari, E, Greenlees, R, Lelong, N, Latos-Bielenska, A, Dias, CM, McDonnell, R, Mull

Journal:

BJOG: An International Journal of Obstetrics and Gynaecology

Year:

2013

Language:

english

File:

PDF, 161 KB

english, 2013

3

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of theKAL1gene

Sowińska-Seidler, Anna, Piwecka, Monika, Olech, Ewelina, Socha, Magdalena, Latos-Bieleńska, Anna, Jamsheer, Aleksander

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 927 KB

english, 2015

4

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome

M Badura-Stronka, A Jamsheer, A Materna-Kiryluk, A Sowińska, K Kiryluk, B Budny, A Latos-Bieleńska

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 540 KB

english, 2010

5

Wiek ciążowy i urodzeniowa masa ciała dzieci z województwa lubuskiego urodzonych w latach 1998–2007 z wrodzonymi wadami rozwojowymi

Paśnicki, Marek, Wiśniewska, Katarzyna, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Krawczyński, Marian

Journal:

Pediatria Polska

Year:

2013

Language:

polish

File:

PDF, 335 KB

polish, 2013

6

Detection of BrdUrd incorporation in mammalian chromosomes by a BrdUrd antibody

A. Latos-Bielenska, H. Hameister, W. Vogel

Journal:

Year:

1987

Language:

english

File:

PDF, 759 KB

english, 1987

7

Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B -Related brachydactyly

Badura-Stronka, Magdalena, Mróz, Dariusz, Beighton, Peter, Łukawiecki, Sebastian, Wicher, Katarzyna, Latos-Bieleńska, Anna, Kozłowski, Kazimierz

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2015

Language:

english

File:

PDF, 179 KB

english, 2015

8

Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia

Kusz-Zamelczyk, K., Sajek, M., Spik, A., Glazar, R., Jedrzejczak, P., Latos-Bielenska, A., Kotecki, M., Pawelczyk, L., Jaruzelska, J.

Journal:

Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 463 KB

english, 2013

9

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication

Luteijn, Johannes M., Morris, Joan K., Garne, Ester, Given, Joanne, de Jong-van den Berg, Lolkje, Addor, Marie-Claude, Bakker, Marian, Barisic, Ingeborg, Gatt, Miriam, Klungsoyr, Kari, Latos-Bielenska

Journal:

British Journal of Clinical Pharmacology

Year:

2016

Language:

english

File:

PDF, 780 KB

english, 2016

10

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

Joanna Walczak-Sztulpa, Marzena Wisniewska, Anna Latos-Bielenska, Maja Linné, Christina Kelbova, Britta Belitz, Lutz Pfeiffer, Vera Kalscheuer, Fikret Erdogan, Andreas W. Kuss, Hans-Hilger Ropers, Rei

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 166 KB

english, 2008

11

Frequency and distribution of chiasmata in Syrian hamster spermatocytes studied by the BrdU antibody technique

Anna Latos-Bielenska, Walther Vogel

Journal:

Year:

1990

Language:

english

File:

PDF, 1.62 MB

english, 1990

12

A novel form of ischio-vertebral syndrome

Ali Al Kaissi, Farid Ben Chehida, Anna Latos-Bielenska, Hassan Gharbi, Maher Ben Ghachem, Lofti Hendaoui, Kazimierz Kozlowski

Journal:

Skeletal Radiology

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

13

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) — Further extension of the mutational spectrum

Jamsheer, Aleksander, Sowińska-Seidler, Anna, Socha, Magdalena, Stembalska, Agnieszka, Kiraly-Borri, Cathy, Latos-Bieleńska, Anna

Journal:

Year:

2014

Language:

english

File:

PDF, 636 KB

english, 2014

14

Demonstration of replication patterns in the last premeiotic S-phase of male Chinese hamsters after BrdU pulse labeling

Anna Latos-Bielenska, Walther Vogel

Journal:

Year:

1992

Language:

english

File:

PDF, 1018 KB

english, 1992

15

A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

A Jamsheer, M Badura-Stronka, A Sowińska, S Dębicki, K Kiryluk, A Latos-Bieleńska

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 606 KB

english, 2010

16

An improved, non-isotopic method of screening cells from patients with abnormalities of sexual differentiation for Y chromosomal DNA content.

Witt, M, Michalczak, K, Latos-Bielenska, A, Jaruzelska, J, Kuczora, I, Lopez, M

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 736 KB

english, 1993

17

Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome

Olech, Ewelina M., Matuszewska, Karolina, Piechota, Michał, Latos-Bieleńska, Anna, Jamsheer, Aleksander

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 249 KB

2019

18

Mutation Screening of Charcot-Marie-Tooth Patients in Poland

A. KOCHAŃSKI, V. TIMMERMAN, H. JEDRZEJOWSKA, B. RYNIEWICZ, A. LÖFGREN, E. De VRIENDT, C. VAN BROECKHOVEN, A. LATOS-BIELEŃSKA, I. HAUSMANOWA-PETRUSEWICZ

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 318 KB

1999

19

Higher resolution banding techniques in the clinical routine

Anna Latos-Bielenska, Horst Hameister

Journal:

Clinical Genetics

Year:

1988

Language:

english

File:

PDF, 399 KB

english, 1988

20

Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening

Boyle, B, Morris, JK, McConkey, R, Garne, E, Loane, M, Addor, MC, Gatt, M, Haeusler, M, Latos-Bielenska, A, Lelong, N, McDonnell, R, Mullaney, C, O'Mahony, M, Dolk, H

Journal:

BJOG: An International Journal of Obstetrics & Gynaecology

Year:

2014

Language:

english

File:

PDF, 349 KB

english, 2014

21

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13 and Fetal Sex

Koumbaris, G., Kypri, E., Tsangaras, K., Achilleos, A., Mina, P., Neofytou, M., Velissariou, V., Georgia, C., Kallikas, I., Gonzalez-Linan, A., Benusiene, E., Latos-Bielenska, A., Marek, P., Santana,

Journal:

Clinical Chemistry

Year:

2016

Language:

english

File:

PDF, 391 KB

english, 2016

22

DNA damage induced by lithotripter generated shock waves: Short report

A.M. Kochański, J.P. Mejnartowicz, A. Latos-Bieleńska, J. Etienne, L. Filipczyński

Journal:

International Urology and Nephrology

Year:

2001

Language:

english

File:

PDF, 96 KB

english, 2001

23

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1

Materna-Kiryluk, Anna, Kiryluk, Krzysztof, Burgess, Katelyn E., Bieleninik, Arkadiusz, Sanna-Cherchi, Simone, Gharavi, Ali G., Latos-Bielenska, Anna

Journal:

Pediatric Nephrology

Year:

2014

Language:

english

File:

PDF, 551 KB

english, 2014

24

Rare malformation syndromes in polish registry of congenital malformations in 2014-2017

Anna, Latos-Bielenska, Anna, Materna-Kiryluk, Katarzyna, Wisniewska, Anna, Jamry-Dziurla, Karolina, Matuszewska, Renata, Glazar, Aleksander, Jamsheer, Dorota, Wicher, Ryszard, Slezak, Jacek, Pilch

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

25

Osteopoikilosis and multiple exostoses caused by novel mutations inLEMD3andEXT1genes respectively - coincidence within one family

Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.38 MB

english, 2010

26

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2gene substantiates interindividual clinical variability

A. Jamsheer, C. Henggeler, J. Wierzba, B. Loeys, A. De Paepe, Ch. Stheneur, N. Badziąg, K. Matuszewska, G. Matyas, A. Latos-Bieleńska

Journal:

Journal of Applied Genetics

Year:

2009

Language:

english

File:

PDF, 432 KB

english, 2009

27

A new case of DOOR syndrome

Marzena Wiśniewska, Zofia Siwińska, Michał Felczak, Tomasz Wielkoszyński, Maciej Krawczyński, Anna Latos-Bieleńska

Journal:

Journal of Applied Genetics

Year:

2008

Language:

english

File:

PDF, 134 KB

english, 2008

28

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency

Jamsheer, Aleksander, Olech, Ewelina M, Kozłowski, Kazimierz, Niedziela, Marek, Sowińska-Seidler, Anna, Obara-Moszyńska, Monika, Latos-Bieleńska, Anna, Karczewski, Marek, Zemojtel, Tomasz

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.44 MB

english, 2016

29

Polymorphisms of the human PUMILIO2 gene and male sterility

K. Kusz, B. Ginter-Matuszewska, K. Ziolkowska, A. Spik, J. Bierla, P. Jedrzejczak, A. Latos-Bielenska, L. Pawelczyk, J. Jaruzelska

Journal:

Molecular Reproduction and Development

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

30

Pachydermoperiostosis–critical analysis with report of five unusual cases

Anna Latos-Bielenska, Ivo Marik, Miroslaw Kuklik, Anna Materna-Kiryluk, Czeslaw Povysil, Kazimierz Kozlowski

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 321 KB

english, 2007

31

Visualization of DNA in pachytene by monoclonal antibodies against BrdU reveals synaptonemal complex-like structures

Latos-Bielenska, A., Trautmann, T., Vogel, W.

Journal:

Cytogenetic and Genome Research

Year:

1990

File:

PDF, 1.09 MB

1990

32

Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B -Related brachydactyly

Badura-Stronka, Magdalena, Mróz, Dariusz, Beighton, Peter, Łukawiecki, Sebastian, Wicher, Katarzyna, Latos-Bieleńska, Anna, Kozłowski, Kazimierz

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2015

File:

PDF, 179 KB

2015

33

Cell-free fetal DNA testing in prenatal diagnosis. Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

Sieroszewski, Piotr, Wielgos, Mirosław, Radowicki, Stanislaw, Sasiadek, Maria, Borowiec, Maciej, Borowski, Dariusz, Jakubowski, Lucjusz, Kaczmarek, Piotr, Latos-Bielenska, Anna, Laudanski, Piotr, Nowa

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2017

Language:

english

File:

PDF, 186 KB

english, 2017

34

Isolated brachydactyly type E caused by aHOXD13nonsense mutation: a case report

Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska

Journal:

BMC Medical Genetics

Year:

2012

Language:

english

File:

PDF, 327 KB

english, 2012

35

Mutational screening ofEXT1andEXT2genes in Polish patients with hereditary multiple exostoses

Jamsheer, Aleksander, Socha, Magdalena, Sowińska-Seidler, Anna, Telega, Kinga, Trzeciak, Tomasz, Latos-Bieleńska, Anna

Journal:

Journal of Applied Genetics

Year:

2014

Language:

english

File:

PDF, 175 KB

english, 2014

36

Wrodzone wady rozwojowe u dzieci w wieku do 2 lat na terenie województw zielonogórskiego (1988–1997) i lubuskiego (1998–2007). Część 2. Środowisko zamieszkania matki (miasto – wieś) i płeć dziecka

Paśnicki, Marek, Wiśniewska, Katarzyna, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Krawczyński, Marian

Journal:

Pediatria Polska

Year:

2013

Language:

polish

File:

PDF, 285 KB

polish, 2013

37

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations

Walczak-Sztulpa, Joanna, Wawrocka, Anna, Sobierajewicz, Agata, Kuszel, Lukasz, Zawadzki, Jan, Grenda, Ryszard, Swiader-Lesniak, Anna, Kocyla-Karczmarewicz, Beata, Wnuk, Anna, Latos-Bielenska, Anna, Ch

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

38

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

Sowińska-Seidler, Anna, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Stronka, Michał, Jamsheer, Aleksander

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2014

Language:

english

File:

PDF, 278 KB

english, 2014

39

Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland

Materna-Kiryluk, Anna, Więckowska, Barbara, Wiśniewska, Katarzyna, Czyżewska, Małgorzata, Godula-Stuglik, Urszula, Jaworska-Bobkier, Romana, Walencka, Zofia, Kucharska, Zofia, Latos-Bieleńska, Anna

Journal:

International Journal of Environmental Health Research

Year:

2014

File:

PDF, 5.36 MB

2014

40

NANOS3 gene mutations in men with isolated sterility phenotype

Kamila Kusz, Lidia Tomczyk, Anna Spik, Anna Latos-Bielenska, Piotr Jedrzejczak, Leszek Pawelczyk, Jadwiga Jaruzelska

Journal:

Molecular Reproduction and Development

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

41

Wrodzone wady rozwojowe u dzieci w wieku do 2 lat na terenie województw zielonogórskiego (1988–1997) i lubuskiego (1998–2007). Część 3. Wiek matki a występowanie wrodzonych wad rozwojowych

Paśnicki, Marek, Wiśniewska, Katarzyna, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Krawczyński, Marian

Journal:

Pediatria Polska

Year:

2013

Language:

polish

File:

PDF, 534 KB

polish, 2013

42

Wrodzone wady rozwojowe u dzieci w wieku do 2 lat na terenie województw zielonogórskiego (1988–1997) i lubuskiego (1998–2007). Część 4. Kolejność urodzenia dziecka a występowanie wrodzonych wad rozwojowych

Paśnicki, Marek, Wiśniewska, Katarzyna, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Krawczyński, Marian

Journal:

Pediatria Polska

Year:

2013

Language:

polish

File:

PDF, 238 KB

polish, 2013

43

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Jamsheer, Aleksander, Sowińska-Seidler, Anna, Olech, Ewelina M, Socha, Magdalena, Kozłowski, Kazimierz, Pyrkosz, Antoni, Trzeciak, Tomasz, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.21 MB

english, 2016

44

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly: a registry-based study in 14 European countries 1984-2007

Boyle, B, McConkey, R, Garne, E, Loane, M, Addor, MC, Bakker, MK, Boyd, PA, Gatt, M, Greenlees, R, Haeusler, M, Klungsøyr, K, Latos-Bielenska, A, Lelong, N, McDonnell, R, Métneki, J, Mullaney, C, Nele

Journal:

BJOG: An International Journal of Obstetrics and Gynaecology

Year:

2013

Language:

english

File:

PDF, 263 KB

english, 2013

45

Wrodzone wady rozwojowe u dzieci w wieku do 2 lat na terenie województw zielonogórskiego (1988–1997) i lubuskiego (1998–2007). Część 1. Częstość występowania i rodzaje wad

Paśnicki, Marek, Wiśniewska, Katarzyna, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Krawczyński, Marian

Journal:

Pediatria Polska

Year:

2013

Language:

polish

File:

PDF, 820 KB

polish, 2013

46

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

Barisic, Ingeborg, Boban, Ljubica, Akhmedzhanova, Diana, Bergman, Jorieke E.H., Cavero-Carbonell, Clara, Grinfelde, Ieva, Materna-Kiryluk, Anna, Latos-Bieleńska, Anna, Randrianaivo, Hanitra, Zymak-Zak

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 458 KB

english, 2018

47

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita

J. Sulko, M. Czarny-Ratajczak, A. Wozniak, A. Latos-Bielenska, K. Kozlowski

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 201 KB

english, 2005

48

A novelGJA1missense mutation in a Polish child with oculodentodigital dysplasia

A. Jamsheer, M. Wiśniewska, A. Szpak, G. Bugaj, M. R. Krawczyński, B. Budny, A. Wawrocka, A. Latos-Bieleńska

Journal:

Journal of Applied Genetics

Year:

2009

Language:

english

File:

PDF, 365 KB

english, 2009

49

Reply from the author

Dr Anna Materna-Kiryluk, Prof Anna Latos-Bielenska

Journal:

Paediatric and Perinatal Epidemiology

Year:

2009

Language:

english

File:

PDF, 36 KB

english, 2009

50

Clinical and ultrastructural findings in an ataxic variant of Kufor-Rakeb syndrome

Pietrzak, Anna, Badura-Stronka, Magdalena, Kangas-Kontio, Tiia, Felczak, Paulina, Kozubski, Wojciech, Latos-Bielenska, Anna, Wierzba-Bobrowicz, Teresa, Florczak-Wyspianska, Jolanta

Journal:

Folia Neuropathologica

Year:

2019

Language:

english

File:

PDF, 320 KB

english, 2019

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