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1

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

2

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

3

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

4

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

5

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

Dorota Jurkiewicz, Ewa Popowska, Christiane Gläser, Ingo Hansmann, Małgorzata Krajewska-Walasek

Journal:

Year:

2005

Language:

english

File:

PDF, 119 KB

english, 2005

6

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

7

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

8

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

Lidia Ziolkowska, Wanda Kawalec, Anna Turska-Kmiec, Malgorzata Krajewska-Walasek, Grazyna Brzezinska-Rajszys, Jadwiga Daszkowska, Bogdan Maruszewski, Piotr Burczynski

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

9

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

10

A case of Prader – Willi syndrome arising as a result of familial unbalanced translocation t(11;15)(q25;q13)

Malgorzata Krajewska Walasek, Anna Gutkowska, Beata Bielińska, Bozenna Goryluk-Kozakiewicz, Ewa Popowska

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 996 KB

english, 1998

11

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

12

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

13

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

Language:

english

File:

PDF, 179 KB

english, 2001

14

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

15

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

16

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

17

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

Agata Skórka, Elżbieta Ciara, Dorota Gieruszczak-Białek, Magdalena Pelc, Monika Kugaudo, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 146 KB

english, 2012

18

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika B. Hartig, Arcangela Iuso, Tobias Haack, Tomasz Kmiec, Elzbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Malgorzata Krajewska-Walasek, Sergiusz Jozwiak, Maja H

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 899 KB

english, 2011

19

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

20

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

21

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

Dorota Jurkiewicz, Aleksandra Jezela-Stanek, Elżbieta Ciara, Dorota Piekutowska-Abramczuk, Monika Kugaudo, Maria Gajdulewicz, Krystyna Chrzanowska, Ewa Popowska, Małgorzata Krajewska-Walasek

Journal:

European Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 839 KB

english, 2010

22

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

23

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

24

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

25

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

26

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

27

Zespół delecji 22q13 w praktyce klinicznej i cytogenetycznej: opis nowego przypadku (zespół Phelan i McDermid)

Grabowska, Ewa, Jezela-Stanek, Aleksandra, Marczak-Hałupka, Anna, Marczak, Aleksandra, Gutkowska, Anna, Gajdulewicz, Maria, Spodar, Krystyna, Chrzanowska, Krystyna H., Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 285 KB

polish, 2008

28

Tetraploidy in the era of molecular karyotyping – What we need to remember

Bothur-Nowacka, Joanna, Jezela-Stanek, Aleksandra, Zaniuk, Katarzyna, Goryluk-Kozakiewicz, Bożenna, Krajewska-Walasek, Małgorzata, Dobrzańska, Anna

Journal:

Pediatria Polska

Year:

2013

Language:

english

File:

PDF, 833 KB

english, 2013

29

Mutacje genów kompleksu BAF jako nowy czynnik etiologiczny izolowanej oraz syndromicznej niepełnosprawności intelektualnej w zespołach Coffina i Siris oraz Nicolaidesa i Baraitsera

Jezela-Stanek, Aleksandra, Pelc, Magdalena, Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2014

Language:

polish

File:

PDF, 379 KB

polish, 2014

30

Zespoły subtelomerowych mikrodelecji w praktyce pediatrycznej: zespół delecji 22q13

Krajewska-Walasek, Małgorzata, Jezela-Stanek, Aleksandra, Grabowska, Ewa

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 227 KB

polish, 2008

31

Table of Contents

Krajewska-Walasek, Małgorzata, Jezela-Stanek, Aleksandra, Grabowska, Ewa

Journal:

Regional Anesthesia and Pain Medicine

Year:

2006

Language:

english

File:

PDF, 27 KB

english, 2006

32

Contents

Krajewska-Walasek, Małgorzata, Jezela-Stanek, Aleksandra, Grabowska, Ewa

Journal:

La Revue de Médecine Interne

Year:

1993

Language:

english

File:

PDF, 66 KB

english, 1993

33

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

34

Dziecko z dysmorfią: wczoraj i dziś

Krajewska-Walasek, Małgorzata

Journal:

Pediatria Polska

Year:

2008

Language:

polish

File:

PDF, 226 KB

polish, 2008

35

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

36

Zaburzenia regulacji epigenetycznej procesów wzrastania na przykładzie zespołu Silvera i Russella

Tańska, Anna, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata, Chrzanowska, Krystyna H.

Journal:

Pediatria Polska

Year:

2012

Language:

polish

File:

PDF, 1.54 MB

polish, 2012

37

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

38

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

39

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Małunowicz, Ewa, Chrzanowska, Krystyna, Latos-Bieleńska, Anna, Krajewska-Walasek, Małgorzata

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

40

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

41

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

42

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

43

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

44

X-linked α thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

Jezela-Stanek, Aleksandra, Fisher, Chris, Szarras-Czapnik, Maria, Olczak-Kowalczyk, Dorota, Gibbons, Richard J., Słowikowska-Hilczer, Jolanta, Krajewska-Walasek, Małgorzata

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 269 KB

english, 2009

45

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

46

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

47

ANEMIA IN PATIENTS WITH RESISTANCE TO THYROID HORMONE ALPHA (RTHα): A ROLE FOR TRα IN HUMAN ERYTHROPOIESIS

VAN GUCHT, ANJA L.M., MEIMA, MARCEL E., MORAN, CARLA, AGOSTINI, MAURA, TYLKI-SZYMANSKA, ANNA, KRAJEWSKA–WALASEK, MAŁGORZATA, CHRZANOWSKA, KRYSTYNA, EFTHYMIADOU, ALEXANDRA, CHRYSIS, DIONISIOS, DEMIR, K

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2017

Language:

english

File:

PDF, 18.07 MB

english, 2017

48

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

49

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

Jurkiewicz, Dorota, Skórka, Agata, Ciara, Elżbieta, Kugaudo, Monika, Pelc, Magdalena, Chrzanowska, Krystyna, Krajewska-Walasek, Małgorzata

Journal:

Clinical Dysmorphology

Year:

2020

File:

PDF, 394 KB

2020

50

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