Krajewska-Walasek, M: search on Z-Library

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1

DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome

E Ciara, MJM Nowaczyk, M Witsch-Baumgartner, E Malunowicz, E Popowska, A Jezela-Stanek, M Piotrowicz, JS Waye, G Utermann, M Krajewska-Walasek

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 103 KB

english, 2004

2

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

Krajewska-Walasek, Małgorzata, Jurkiewicz, Dorota, Piekutowska-Abramczuk, Dorota, Kucharczyk, Marzena, Chrzanowska, Krystyna H., Jezela-Stanek, Aleksandra, Ciara, Elżbieta

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 179 KB

english, 2016

3

Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies

A Jezela-Stanek, EM Małunowicz, E Ciara, E Popowska, B Goryluk-Kozakiewicz, K Spodar, M Czerwiecka, J Jezuita, MJM Nowaczyk, M Krajewska-Walasek

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 184 KB

english, 2006

4

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Jezela-Stanek, Aleksandra, Kucharczyk, Marzena, Gutkowska, Anna, Pelc, Magdalena, Ciara, Elżbieta, Chrzanowska, Krystyna H., Krajewska-Walasek, Małgorzata

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 230 KB

english, 2012

5

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miett

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 313 KB

english, 2007

6

Współpraca genetyka klinicznego i biologa molekularnego – wczoraj i dziś

Jezela-Stanek, Aleksandra, Kucharczyk, Marzena, Jurkiewicz, Dorota, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2015

Language:

polish

File:

PDF, 1.78 MB

polish, 2015

7

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

8

The mutational spectrum in Waardenburg syndrome

Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Win

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.04 MB

english, 1995

9

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: A variant example of the Lenz–Majewski syndrome

K. H. Chrzanowska, J. P. Fryns, M. Krajewska-Walasek, H. Van den Berghe, L. Wisniewski

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 480 KB

english, 1989

10

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

Anna Gutkowska, Anna Tylki-Szymańska, Ewa Popowska, Beata Bielińska, Dorota Jurkiewicz, Małgorzata Krajewska-Walasek

Journal:

European Journal of Medical Genetics

Year:

2005

Language:

english

File:

PDF, 92 KB

english, 2005

11

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Anna Rajab, Roberto Gi

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.49 MB

english, 2004

12

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

Bartholdi, D, Krajewska-Walasek, M, Ounap, K, Gaspar, H, Chrzanowska, K H, Ilyana, H, Kayserili, H, Lurie, I W, Schinzel, A, Baumer, A

Journal:

Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 232 KB

english, 2008

13

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

E. Ciara, E. Popowska, D. Piekutowska-Abramczuk, D. Jurkiewicz, M. Borucka-Mankiewicz, Paweł Kowalski, B. Goryluk-Kozakiewicz, M.J.M. Nowaczyk, M. Krajewska-Walasek

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 163 KB

english, 2006

14

Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation

Blachowska, Ewa, Petriczko, Elżbieta, Horodnicka-Józwa, Anita, Skórka, Agata, Pelc, Magdalena, Krajewska-Walasek, Małgorzata, Walczak, Mieczysław

Journal:

Italian Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 2.40 MB

english, 2016

15

Maternal de novo triple mosaicism for two singleOCRLnucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Markus Draaken, Carmen A. Giesen, Anne L. Kesselheim, Ronald Jabs, Stefan Aretz, Monika Kugaudo, Krystyna H. Chrzanowska, Malgorzata Krajewska-Walasek, Michael Ludwig

Journal:

Year:

2011

Language:

english

File:

PDF, 425 KB

english, 2011

16

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-Additional case and data's review

Jezela-Stanek, Aleksandra, Kucharczyk, Marzena, Pelc, Magdalena, Gutkowska, Anna, Krajewska-Walasek, Małgorzata

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 339 KB

english, 2013

17

Melnick-Needles syndrome

KRAJEWSKA-WALASEK, M, KOZLOWSKI, K

Journal:

Australasian Radiology

Year:

1994

Language:

english

File:

PDF, 1011 KB

english, 1994

18

Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages

Krajewska-Walasek, Ma??gorzata, Gradowska, Wanda, Ryzko, J??zef, Socha, Piotr, Chmielik, Jolanta, Szap??yko, Waldemar, Kasprzyk, Jolanta, G??rska, Bozena, Szreter, Miros??awa, Wolski, Jan, Rysiewski,

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 7.92 MB

1999

19

11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency

Jurkiewicz, Dorota, Kugaudo, Monika, Tańska, Anna, Wawrzkiewicz-Witkowska, Angelika, Tomaszewska, Agnieszka, Kucharczyk, Marzena, Cieślikowska, Agata, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata

Journal:

Pediatrics International

Year:

2015

Language:

english

File:

PDF, 577 KB

english, 2015

20

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

Pelc, Magdalena, Ciara, Elżbieta, Jezela-Stanek, Aleksandra, Kugaudo, Monika, Cieślikowska, Agata, Jurkiewicz, Dorota, Janeczko, Magdalena, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata, Skórka

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 263 KB

english, 2017

21

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of polish pediatric patients with sporadic lymphoid malignancies

Krystyna H. Chrzanowska, Dorota Piekutowska-Abramczuk, Ewa Popowska, Małgorzata Gładkowska-Dura, Jadwiga Małdyk, Małgorzata Syczewska, Małgorzata Krajewska-Walasek, Bożenna Goryluk-Kozakiewicz, Halina

Journal:

International Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

22

Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency

Krystyna H Chrzanowska, M. Krajewska-Walasek, J. Kuś, J. Michalkdewicz, D. Maziarka, JK Wolski, L. Brecevic, K. Madaliński

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.41 MB

english, 1998

23

10.1038/75629

Horsthemke, Bernhard, Bielinska, Beata, Blaydes, Susan M., Buiting, Karin, Yang, Tao, Krajewska-Walasek, Malgorzata, Brannan, Camilynn I.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 623 KB

english, 2000

24

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

Sylwia Łuczak, Dorota Piekutowska-Abramczuk, Paweł Kowalski, Elżbieta Ciara, Dorota Jurkiewicz, Maria Borucka-Mankiewicz, Anna Tańska, Magdalena Pelc, Joanna Trubicka, Małgorzata Krajewska-Walasek, Ew

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 57 KB

english, 2010

25

Cranial MRI in the Nijmegen breakage syndrome

M. Bekiesińska-Figatowska, K. H. Chrzanowska, J. Sikorska, J. Walecki, M. Krajewska-Walasek, S. Jóźwiak, W. J. Kleijer

Journal:

Year:

2000

Language:

english

File:

PDF, 385 KB

english, 2000

26

Zespół Costello jako przykład rzadkich zaburzeń funkcji szlaku sygnalnego Ras-MAPK: obraz kliniczny i diagnostyka molekularna choroby

Pelc, Magdalena, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2012

Language:

polish

File:

PDF, 476 KB

polish, 2012

27

Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Jurkiewicz, Dorota, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2014

Language:

polish

File:

PDF, 377 KB

polish, 2014

28

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

T. Ohta, T.A. Gray, P.K. Rogan, K. Buiting, J.M. Gabriel, S. Saitoh, B. Muralidhar, B. Bilienska, M. Krajewska-Walasek, D.J. Driscoll, B. Horsthemke, M.G. Butler, R.D. Nicholls

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.83 MB

english, 1999

29

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes

Iwanicka-Pronicka, Katarzyna, Socha, Magdalena, Jędrzejowska, Maria, Krajewska-Walasek, Małgorzata, Jamsheer, Aleksander

Journal:

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

30

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

Jezela-Stanek, Aleksandra, Murcia, Pienkowski Victor, Jurkiewicz, Dorota, Iwanicka-Pronicka, Katarzyna, Jędrzejowska, Maria, Krajewska-Walasek, Małgorzata, Płoski, Rafał

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 358 KB

2019

31

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth

CLAYTON-SMITH, J., KRAJEWSKA-WALASEK, M., FRYER, A., DONNAI, D.

Journal:

Clinical Dysmorphology

Year:

1994

File:

PDF, 981 KB

1994

32

Rola genu SURF1 w patogenezie zespołu Leigha sprzężonego z deficytem aktywności oksydazy cytochromu c

Piekutowska-Abramczuk, Dorota, Pronicka, Ewa, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 194 KB

polish, 2008

33

Krótka charakterystyka genetycznych uwarunkowań otyłości – jak wpaść na trop właściwego rozpoznania

Spodar, Krystyna, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2007

Language:

polish

File:

PDF, 313 KB

polish, 2007

34

Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

35

Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests

Katarzyna Tońska, Dorota Piekutowska-Abramczuk, Magdalena Kaliszewska, Paweł Kowalski, Anna Tańska, Ewa Bartnik, Ewa Pronicka, Małgorzata Krajewska-Walasek

Journal:

Year:

2012

Language:

english

File:

PDF, 483 KB

english, 2012

36

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

Kucharczyk, Marzena, Kochański, Andrzej, Jezela-Stanek, Aleksandra, Kugaudo, Monika, Sielska-Rotblum, Danuta, Gutkowska, Anna, Krajewska-Walasek, Małgorzata

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.08 MB

english, 2014

37

Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene

Paweł Stankiewicz, Jolanta Rujner, Christiane Löffler, Antje Krüger, Manjunath Nimmakayalu, Bożena Piłacik, Małgorzata Krajewska-Walasek, Anna Gutkowska, Ingo Hansmann, Ioannis Giannakudis

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 330 KB

english, 2001

38

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

M. Witsch-Baumgartner, P. Clayton, N. Clusellas, D. Haas, R.I. Kelley, M. Krajewska-Walasek, S. Lechner, M. Rossi, J. Zschocke, G. Utermann

Journal:

Year:

2005

Language:

english

File:

PDF, 70 KB

english, 2005

39

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

Varon, Raymonda, Seemanova, Eva, Chrzanowska, Krystyna, Hnateyko, Oleg, Piekutowska-Abramczuk, Dorota, Krajewska-Walasek, Malgorzata, Sykut-Cegielska, Jolanta, Sperling, Karl, Reis, André

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

40

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

CHRZANOWSKA, K. H., STUMM, M., BEKIESINSKA-FIGATOWSKA, M., VARON, R., BIALECKA, M., GREGOREK, H., MICHALKIEWICZ, J., KRAJEWSKA-WALASEK, M., JOZWIAK, S., REIS, A.

Journal:

Journal of Medical Genetics

Year:

2001

Language:

english

File:

PDF, 251 KB

english, 2001

41

SURF1 missense mutations promote a mild Leigh phenotype

D Piekutowska-Abramczuk, M Magner, E Popowska, M Pronicki, E Karczmarewicz, J Sykut-Cegielska, T Kmiec, E Jurkiewicz, T Szymanska-Debinska, L Bielecka, M Krajewska-Walasek, K Vesela, J Zeman, E Pronic

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 637 KB

english, 2009

42

Etiopatogeneza i zasady diagnostyki molekularnej zespołu Retta

Jurkiewicz, Dorota, Popowska, Ewa, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2010

Language:

polish

File:

PDF, 218 KB

polish, 2010

43

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family

Jurkiewicz, Dorota, Kugaudo, Monika, Skórka, Agata, Śmigiel, Robert, Smyk, Marta, Ciara, Elżbieta, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 670 KB

english, 2016

44

Schimke immuno-osseous dysplasia: two cases

Anna Tylki-Szymańska, Antoni Pyrkosz, Małgorzata Krajewska-Walasek, Jacek Michałkiewicz, Aleksandra Kowalska, Dariusz Rokicki

Journal:

Pediatric Radiology

Year:

2003

Language:

english

File:

PDF, 211 KB

english, 2003

45

Maternal uniparental disomy 7 – review and further delineation of the phenotype

D. Kotzot, D. Balmer, A. Baumer, K. Chrzanowska, B. C. J. Hamel, H. Ilyina, M. Krajewska-Walasek, I. W. Lurie, B. J. Otten, E. Schoenle, G. Tariverdian, A. Schinzel

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 410 KB

english, 2000

46

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Mignon-Ravix, Cécile, Depetris, Danielle, Luciani, Judith J, Cuoco, Cristina, Krajewska-Walasek, Malgorzata, Missirian, Chantal, Collignon, Patrick, Delobel, Bruno, Croquette, Marie-Françoise, Moncla,

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 207 KB

english, 2007

47

Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

Aleksandra Jezela-Stanek, Elżbieta Ciara, Marzena Juszczak, Magdalena Pelc, Anna Materna-Kiryluk, Małgorzata Krajewska-Walasek

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 480 KB

english, 2011

48

The Dubowitz Syndrome - One More Case

Chrzanowska, K., Krajewska-Walasek, M.

Journal:

Klinische Pädiatrie

Year:

1987

Language:

english

File:

PDF, 236 KB

english, 1987

49

Genetic causes of syndromic craniosynostoses

Jezela-Stanek, Aleksandra, Krajewska-Walasek, Małgorzata

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 109 KB

english, 2013

50

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

Giannakudis, Joannis, Röpke, Albrecht, Kujat, Annegret, Krajewska-Walasek, Malgorzata, Hughes, Helen, Fryns, Jean-Pierre, Bankier, Agnes, Amor, David, Schlicker, Mike, Hansmann, Ingo

Journal:

European Journal of Human Genetics

Year:

2001

File:

PDF, 37 KB

2001

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