Personal information

Websites & social links

Children’s Memorial Health Institute

Other IDs

Scopus Author ID: 54984646300

Keywords

Ras/MAPK pathway, RASopathies, Lung cancer, Cardiogenetics, Cardiac arrhythmia, aortic dysplasia

Countries

Poland

Activities

Collapse all

Employment (2)

Institute of Tuberculosis and Lung Diseases: Warsaw, PL

2023-03-02 to present | Senior Assistant, Laboratory Diagnostician, PhD (Department of Genetics and Clinical Immunology)
Employment
Source: Self-asserted source
Magdalena Pelc

Children's Memorial Health Institute: Warsaw, PL

2009-11-16 to 2023-02-28 | Research Assistant, Laboratory Diagnostician, PhD (Department of Medical Genetics)
Employment
Source: Self-asserted source
Magdalena Pelc

Works (19)

Computational Tools to Assist in Analyzing Effects of the <i>SERPINA1</i> Gene Variation on Alpha-1 Antitrypsin (AAT)

Genes
2024-03 | Journal article | Author
DOI: 10.3390/genes15030340
Contributors: Jakub Mróz; Magdalena Pelc; Karolina Mitusińska; Joanna Chorostowska-Wynimko; Aleksandra Jezela-Stanek
Source: check_circle
Multidisciplinary Digital Publishing Institute

α<sub>1</sub>-Antitrypsin deficiency and other rare forms of emphysema

Rare Diseases of the Respiratory System
2023-06-01 | Book chapter
DOI: 10.1183/2312508x.10018222
Part of ISBN: 9781849841665
Part of ISBN: 9781849841665
Part of ISBN: 9781849841672
Part of ISBN: 9781849841672
Contributors: Joanna Chorostowska-Wynimko; Sabina Janciauskiene; Magdalena Pelc; Pavel Strnad; David Parr
Source: Self-asserted source
Magdalena Pelc

Schemat postępowania diagnostycznego i ocena obrazu klinicznego zespołu Noonan, ze szczególnym uwzględnieniem wrodzonych patologii serca

Standardy Medyczne Pediatria
2020 | Review
Contributors: Magdalena Pelc
Source: Self-asserted source
Magdalena Pelc

Schemat postępowania diagnostycznego i ocena obrazu klinicznego zespołu Noonan, ze szczególnym uwzględnieniem wrodzonych patologii serca

Standardy Medyczne Pediatria
2020 | Review
Contributors: Magdalena Pelc
Source: Self-asserted source
Magdalena Pelc

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

Clinical Dysmorphology
2020-01 | Journal article
DOI: 10.1097/mcd.0000000000000307
Part of ISSN: 0962-8827
Contributors: Dorota Jurkiewicz; Agata Skórka; Elżbieta Ciara; Monika Kugaudo; Magdalena Pelc; Krystyna Chrzanowska; Małgorzata Krajewska-Walasek
Source: Self-asserted source
Magdalena Pelc

Phenotype expansion and development in Kosaki overgrowth syndrome

Clinical Genetics
2018 | Journal article
DOI: 10.1111/cge.13192
EID:

2-s2.0-85044003943
Contributors: Gawliński, P.; Pelc, M.; Ciara, E.; Jhangiani, S.; Jurkiewicz, E.; Gambin, T.; Różdżyńska-Świątkowska, A.; Dawidziuk, M.; Coban-Akdemir, Z.H.; Guilbride, D.L. et al.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

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

Clinical Dysmorphology
2017 | Journal article
DOI: 10.1097/MCD.0000000000000165
EID:

2-s2.0-85007507998
Contributors: Pelc, M.; Ciara, E.; Jezela-Stanek, A.; Kugaudo, M.; Cieslikowska, A.; Jurkiewicz, D.; Janeczko, M.; Chrzanowska, K.; Krajewska-Walasek, M.; Skórka, A.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Phenotypic consequences and the malignancy risk in familial Noonan syndrome due to a rare p.S427G RAF1 mutation

Genetic Counseling
2016 | Journal article
EID:

2-s2.0-85015206279
Contributors: Pelc, M.; Ciara, E.; Jezela-Stanek, A.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

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

Italian Journal of Pediatrics
2016 | Journal article
DOI: 10.1186/s13052-015-0209-4
EID:

2-s2.0-84956608724
Contributors: Blachowska, E.; Petriczko, E.; Horodnicka-Józwa, A.; Skórka, A.; Pelc, M.; Krajewska-Walasek, M.; Walczak, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene

European Journal of Medical Genetics
2015 | Journal article
DOI: 10.1016/j.ejmg.2014.11.002
EID:

2-s2.0-84920166824
Contributors: Ciara, E.; Pelc, M.; Jurkiewicz, D.; Kugaudo, M.; Gieruszczak-Białek, D.; Skórka, A.; Posmyk, R.; Jakubiuk-Tomaszuk, A.; Cieślikowska, A.; Chrzanowska, K.H. et al.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Oculocutaneous albinism in a patient with 17p13.2-pter duplication– a review on the molecular syndromology of 17p13 duplication

Biomedical Papers
2015 | Journal article
DOI: 10.5507/bp.2015.003
EID:

2-s2.0-84934283130
Contributors: Kucharczyk, M.; Jezela-Stanek, A.; Gieruszczak-Bialek, D.; Kugaudo, M.; Cieslikowska, A.; Pelc, M.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Mutations in genes of the BAF complex as a new etiological factor of non-syndromic and syndromic intellectual disability in Coffin-Siris and Nicolaides-Baraitser syndromes,Mutacje genów kompleksu BAF jako nowy czynnik etiologiczny izolowanej oraz syndromicznej niepełnosprawności intelektualnej w zespołach Coffina i Siris oraz Nicolaidesa i Baraitsera

Pediatria Polska
2014 | Journal article
DOI: 10.1016/j.pepo.2013.12.005
EID:

2-s2.0-84897413594
Contributors: Jezela-Stanek, A.; Pelc, M.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Journal of Applied Genetics
2014 | Journal article
DOI: 10.1007/s13353-014-0212-2
EID:

2-s2.0-84904686432
Contributors: Jurkiewicz, D.; Gliwicz, D.; Ciara, E.; Gerfen, J.; Pelc, M.; Piekutowska-Abramczuk, D.; Kugaudo, M.; Chrzanowska, K.; Spinner, N.B.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

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

American Journal of Medical Genetics, Part A
2013 | Journal article
DOI: 10.1002/ajmg.a.35654
EID:

2-s2.0-84871692566
Contributors: Jezela-Stanek, A.; Kucharczyk, M.; Pelc, M.; Gutkowska, A.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

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

American Journal of Medical Genetics, Part A
2012 | Journal article
DOI: 10.1002/ajmg.a.35320
EID:

2-s2.0-84861221422
Contributors: Skórka, A.; Ciara, E.; Gieruszczak-Białek, D.; Pelc, M.; Kugaudo, M.; Chrzanowska, K.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Costello syndrome as an example of rare disorders associated with the dysfunction of the Ras-MAPK signalling pathway: Clinical and molecular diagnostics of the disease,Zespół Costello jako przykład rzadkich zaburzeń funkcji szlaku sygnalnego Ras-MAPK: obraz kliniczny i diagnostyka molekularna choroby

Pediatria Polska
2012 | Journal article
DOI: 10.1016/S0031-3939(12)70590-5
EID:

2-s2.0-84857723847
Contributors: Pelc, M.; Ciara, E.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

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

Clinical Dysmorphology
2012 | Journal article
DOI: 10.1097/MCD.0b013e32834e92b8
EID:

2-s2.0-84858191500
Contributors: Jezela-Stanek, A.; Kucharczyk, M.; Gutkowska, A.; Pelc, M.; Ciara, E.; Chrzanowska, K.H.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

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

American Journal of Medical Genetics, Part A
2012 | Journal article
DOI: 10.1002/ajmg.a.34440
EID:

2-s2.0-84859008675
Contributors: Jezela-Stanek, A.; Kucharczyk, M.; Pelc, M.; Chrzanowska, K.H.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier

Cryptic X; Autosome translocation in a boy - Delineation of the phenotype

Pediatric Neurology
2011 | Journal article
DOI: 10.1016/j.pediatrneurol.2010.10.007
EID:

2-s2.0-79851470066
Contributors: Jezela-Stanek, A.; Ciara, E.; Juszczak, M.; Pelc, M.; Materna-Kiryluk, A.; Krajewska-Walasek, M.
Source: Self-asserted source
Magdalena Pelc via Scopus - Elsevier
How many people are using ORCID?