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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

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

3

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

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

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

8

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

9

Melnick-needles syndrome in males

M. Krajewska-Walasek, J. Winkielman, R. J. Gorlin, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.14 MB

english, 1987

10

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

11

Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome

K. H. Chrzanowska, W. J. Kleijer, M. Krajewska-Walasek, M. Białecka, A. Gutkowska, B. Goryluk-Kozakiewicz, J. Michałkiewicz, J. Stachowski, H. Gregorek, G. Łysón-Wojciechowska, W. Janowicz, S. Jóźwiak

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1012 KB

english, 1995

12

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

13

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

14

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

15

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

16

Cardiac involvement in Coffin-Lowry syndrome

M. Krajewska-Walasek, K. Kubicka, J. Ryżko

Journal:

European Journal of Pediatrics

Year:

1988

Language:

english

File:

PDF, 260 KB

english, 1988

17

Biochemical and DNA markers of X-linked hypophosphataemic rickets: A study of sporadic cases

E. Pronicka, E. Popowska, E. Rowińska, D. Piekutowska, M. Oglecka, M. Krajewska-Walasek

Journal:

Journal of Inherited Metabolic Disease

Year:

1992

Language:

english

File:

PDF, 247 KB

english, 1992

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

CHILD syndrome: clinical picture and diagnostic procedures

G Kamiǹska-Winciorek, L Brzeziǹska-Wcisło, A Jezela-Stanek, M Krajewska-Walasek, D Cunningham, GE Herman

Journal:

Journal of the European Academy of Dermatology and Venereology

Year:

2007

Language:

english

File:

PDF, 112 KB

english, 2007

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

Detection of single large-scale mitochondrial DNA deletions by MLPA technique

D. Piekutowska-Abramczuk, A. Tanska, P. Kowalski, K. Tonska, E. Ciara, D. Jurkiewicz, M. Borucka-Mankiewicz, S. Luczak, M. Pelc, J. Sykut-Cegielska, M. Krajewska-Walasek, E. Bartnik, E. Pronicka

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2010

Language:

english

File:

PDF, 78 KB

english, 2010

35

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

36

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients

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

Journal:

Clinical Genetics

Year:

1989

Language:

english

File:

PDF, 414 KB

english, 1989

37

A further report of Brachmann-de Lange syndrome in two sibs with normal parents

Matgorzata Krajewska-Walasek, Krystyna Chrzanowska, Anna Tylki-Szymańska, Magdalena Bialecka

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 985 KB

english, 1995

38

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

39

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

40

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

41

Detection of a deletion of exons 8–16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay

L. Boyes, A.J. Wallace, M. Krajewska-Walasek, K.H. Chrzanowska, J. Clayton-Smith, S. Ramsden

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 829 KB

english, 2006

42

Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

A. Jezela-Stanek, E. Ciara, E.M. Malunowicz, L. Korniszewski, D. Piekutowska-Abramczuk, E. Popowska, M. Krajewska-Walasek

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 714 KB

english, 2008

43

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

44

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

45

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

46

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

47

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

48

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

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

Melnick-Needles syndrome

KRAJEWSKA-WALASEK, M, KOZLOWSKI, K

Journal:

Australasian Radiology

Year:

1994

Language:

english

File:

PDF, 1011 KB

english, 1994

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