Smigiel, Robert: search on Z-Library

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1

Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Smigiel, Robert, Cabala, Magdalena, Jakubiak, Aleksandra, Kodera, Hirofumi, Sasiadek, Marek J., Matsumoto, Naomichi, Sasiadek, Maria M., Saitsu, Hirotomo

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2016

Language:

english

File:

PDF, 154 KB

english, 2016

2

Heterogenność kliniczna zespołu Kabuki (zespół Niikawy i Kurokiego) na podstawie opisu przypadku 15-letniej pacjentki z nawykowym zwichnięciem rzepek

Błoch, Michał, Śmigiel, Robert

Journal:

Pediatria Polska

Year:

2017

Language:

polish

File:

PDF, 829 KB

polish, 2017

3

Co-occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Robert Smigiel, Aleksandra Jakubiak, Maria Paola Lombardi, Wojciech Jaworski, Ryszard Slezak, Dariusz Patkowski, Raoul C. Hennekam

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 135 KB

english, 2011

4

Migraine and Stroke: What’s the Link? What to Do?

Gryglas, Anna, Smigiel, Robert

Journal:

Current Neurology and Neuroscience Reports

Year:

2017

Language:

english

File:

PDF, 938 KB

english, 2017

5

The Harlequin phenomenon after thoracoscopic repair of esophageal atresia and tracheoesophageal fistula: Is there any coincidence?

Maścianica, Katarzyna A., Śmigiel, Robert, Patkowski, Dariusz

Journal:

Journal of Pediatric Surgery Case Reports

Year:

2015

Language:

english

File:

PDF, 297 KB

english, 2015

6

Zespół mikrodelecji 22q11.2 (zespół DiGeorge’a) bez współistniejącej wady serca – analiza fenotypu pacjentów i problemy diagnostyczne

Śmigiel, Robert, Stembalska, Agnieszka, Cabała, Magdalena, Piotrowicz, Małgorzata, Łaczmańska, Izabela, Jakubowski, Lucjusz, Sąsiadek, Maria Małgorzata

Journal:

Pediatria Polska

Year:

2015

Language:

polish

File:

PDF, 796 KB

polish, 2015

7

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1

Midro, Alina T., Zollino, Marcella, Wiland, Ewa, Panasiuk, Barbara, Iwanowski, Piotr S., Murdolo, Marina, Śmigiel, Robert, Sąsiadek, Maria, Pilch, Jacek, Kurpisz, Maciej

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2016

Language:

english

File:

PDF, 765 KB

english, 2016

8

Inactivation of the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene in squamous cell carcinoma of the larynx

Robert Smigiel, Maria Sasiadek, Tomasz Krecicki, David Ramsey, Jozef Jagielski, Nikolaus Blin

Journal:

Molecular Carcinogenesis

Year:

2004

Language:

english

File:

PDF, 226 KB

english, 2004

9

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused byEFTUD2gene mutations

Smigiel, Robert, Bezniakow, Natalia, Jakubiak, Aleksandra, Błoch, Michał, Patkowski, Dariusz, Obersztyn, Ewa, Sasiadek, Maria M.

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

10

Clinical Applications for Next-Generation Sequencing || Next Generation Sequencing in Dysmorphology

Smigiel, Robert

Year:

2016

Language:

english

File:

PDF, 283 KB

english, 2016

11

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

Pastorczak, Agata, Hogendorf, Anna, UrbaÅska, Zuzanna, BudzyÅska, Edyta, JesionekâKupnicka, Dorota, Gach, Agnieszka, Hawula, Wanda, Smigiel, Robert, Skiba, Pawel, Sasiadek, Maria, Lejman, Monika,

Journal:

Genes, Chromosomes and Cancer

Year:

2020

File:

PDF, 2.32 MB

2020

12

Propozycje postępowania z noworodkiem w przypadku rozpoznania wady letalnej w okresie prenatalnym

Szmyd, Krzysztof, Śmigiel, Robert, Królak-Olejnik, Barbara

Journal:

Pediatria Polska

Year:

2014

Language:

polish

File:

PDF, 344 KB

polish, 2014

13

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

Smigiel, Robert, Sherman, Diane L, Rydzanicz, Małgorzata, Walczak, Anna, Mikolajkow, Dorota, Krolak-Olejnik, Barbara, Kosińska, Joanna, Gasperowicz, Piotr, Biernacka, Anna, Stawinski, Piotr, Marciniak

Journal:

Human Molecular Genetics

Year:

2018

File:

PDF, 9.38 MB

2018

14

Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype

Pawel Karpinski, Aleksander Myszka, David Ramsey, Blazej Misiak, Justyna Gil, Izabela Laczmanska, Zygmunt Grzebieniak, Tadeusz Sebzda, Robert Smigiel, Agnieszka Stembalska, Maria M. Sasiadek

Journal:

Cancer Epidemiology

Year:

2010

Language:

english

File:

PDF, 176 KB

english, 2010

15

The impact of congenital esophageal atresia on the family functioning

Rozensztrauch, Anna, Śmigiel, Robert, Błoch, Michał, Patkowski, Dariusz

Journal:

Journal of Pediatric Nursing

Year:

2019

File:

PDF, 289 KB

2019

16

A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism

Smigiel, Robert, Barg, Ewa, Gabrysz, Maja, Szpich, Elzbieta, Sasiadek, Marek, Sasiadek, Maria

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

17

Chromosome Aberrations and Gene Mutations in Patients With Esophageal Atresia

Bednarczyk, Damian, Sasiadek, Maria M., Smigiel, Robert

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2013

Language:

english

File:

PDF, 176 KB

english, 2013

18

Znaczenie komunikacji lekarza z pacjentem dla postępowania terapeutycznego w czasie trwania ciąży i po urodzeniu dziecka. Analiza przypadku oraz obecnego stanu prawnego

Szmyd, Krzysztof, Pankiewicz, Olgierd, Śmigiel, Robert, Węcławek-Tompol, Jadwiga, Królak-Olejnik, Barbara

Journal:

Pediatria Polska

Year:

2017

Language:

polish

File:

PDF, 313 KB

polish, 2017

19

Trudności w diagnostyce klinicznej mukopolisacharydoz – historia trzech przypadków

Śmigiel, Robert, Misiak, Błażej, Pytrus, Tomasz, Iwańczak, Barbara, Sąsiadek, Maria M.

Journal:

Pediatria Polska

Year:

2009

Language:

polish

File:

PDF, 472 KB

polish, 2009

20

Microsatellite and chromosome instability in squamous cell laryngeal carcinoma

Sasiadek, Maria, Stembalska-Kozlowska, Agnieszka, Smigiel, Robert, Krecicki, Tomasz, Blin, Nikolaus, Mirghomizadeh, Farhad

Journal:

International Journal of Oncology

Year:

2001

Language:

english

File:

PDF, 1.49 MB

english, 2001

21

GLOVE PERMEATION BY SEMICONDUCTOR PROCESSING MIXTURES CONTAINING GLYCOL-ETHER DERIVATIVES

Zellers, Edward T., Ke, Huiqiong, Smigiel, David, Sulewski, Robert, Patrash, Samuel J., Han, Mingwei, Zhang, Guo Zheng

Journal:

Year:

1992

File:

PDF, 1.25 MB

1992

22

Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Matuszewska, Karolina E., Badura-Stronka, Magdalena, Śmigiel, Robert, Cabała, Magdalena, Biernacka, Anna, Kosinska, Joanna, Rydzanicz, Malgorzata, Winczewska-Wiktor, Anna, Sasiadek, Maria, Latos-Biele

Journal:

Clinical Dysmorphology

Year:

2018

Language:

english

File:

PDF, 157 KB

english, 2018

23

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Robert Smigiel, Aleksandra Jakubiak, Vera Esteves-Vieira, Katarzyna Szela, Agnieszka Halon, Tomasz Jurek, Nicolas Lévy, Annachiara De Sandre-Giovannoli

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

24

Przepuklina pępowinowa i wytrzewienie wrodzone – różnice i podobieństwa w etiologii, diagnostyce oraz postępowaniu z noworodkiem

Depczyńska, Katarzyna, Śmigiel, Robert, Patkowski, Dariusz

Journal:

Pediatria Polska

Year:

2014

Language:

polish

File:

PDF, 369 KB

polish, 2014

25

Walidacja narzędzia diagnostycznego „Skale Inteligencji i Rozwoju dla Dzieci w Wieku Przedszkolnym (IDS-P)” z udziałem grupy dzieci z rozpoznanym płodowym zespołem alkoholowym wg kryteriów waszyngtońskich

Palicka, Iwona, Śmigiel, Robert

Journal:

Pediatria Polska

Year:

2017

Language:

polish

File:

PDF, 1.25 MB

polish, 2017

26

Mutation update for the PORCN gene

Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel,

Journal:

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

27

The Pallister-Killian syndrome in a child with rare karyotype—a diagnostic problem

Robert Smigiel, Jacek Pilch, Izabela Makowska, Halina Busza, Ryszard Slezak, Maria M. Sasiadek

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 94 KB

english, 2008

28

Bladder agenesis in a male neonate

Dariusz Patkowski, Wojciech Apoznański, Tomasz Szydełko, Wojciech Jaworski, Robert Śmigiel

Journal:

Journal of Pediatric Surgery

Year:

2008

Language:

english

File:

PDF, 223 KB

english, 2008

29

The Triple "A" Syndrome Confirmed by Molecular Analysis: A Case Report of 7-Year-Old Boy

Iwanczak, Franciszek, Smigiel, Robert, Blitek, Aleksander, Huebner, Angela

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2005

Language:

english

File:

PDF, 193 KB

english, 2005

30

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A., van Dam, Sipko, Hoover-Fong, Julie, Telegrafi, Aida B., Destree, Anne, Smigiel, Robert, Lambie, L

Journal:

Year:

2017

Language:

english

File:

PDF, 2.26 MB

english, 2017

31

ATMC1(transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment

Hassan, Mohamed Ahamed, Shah, Aftab Ali, Szmida, Elzbieta, Smigiel, Robert, Sasiadek, Maria M., Pfister, Markus, Blin, Nikolaus, Bress, Andreas

Journal:

Journal of Applied Genetics

Year:

2015

Language:

english

File:

PDF, 543 KB

english, 2015

32

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

33

Zespół Noonan u noworodka z przeważającymi objawami niewydolności oddechowej oraz kardiomiopatii przerostowej i nadciśnienia płucnego

Jeleń, Karolina, Śmigiel, Robert, Gos, Monika, Terpińska, Ewa, Królak-Olejnik, Barbara

Journal:

Pediatria Polska

Year:

2016

Language:

polish

File:

PDF, 488 KB

polish, 2016

34

DNA-methylation abundantly associates with fetal alcohol spectrum disorder and its subphenotypes

Cobben, Jan Maarten, Krzyzewska, Izabela M, Venema, Andrea, Mul, Adri N, Polstra, Abeltje, Postma, Alex V, Smigiel, Robert, Pesz, Karolina, Niklinski, Jacek, Chomczyk, Monika A, Henneman, Peter, Manne

Journal:

Year:

2019

File:

PDF, 1.91 MB

2019

35

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

Robert, Smigiel, Anna, Rozensztrauch, Anna, Walczak, Małgorzata, Rydzanicz, Piotr, Stawinski, Marta, Berghausen-Mazur, Grażyna, Kostrzewa, Malgorzata, Sasiadek, Rafal, Ploski

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 122 KB

2019

36

Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)

Joanna Bernaciak, Krzysztof Szczałuba, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Ewa Bocian, Maria Małgorzata Sąsiadek, Izabela Makowska, Paweł Stankiewicz, Robert Śmigiel

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 174 KB

english, 2008

37

Częściowa monosomia ramienia krótkiego chromosomu 9 u siedmiomiesięcznej dziewczynki – opis przypadku

Pesz, Karolina A., Śmigiel, Robert, Makowska, Izabela, Sąsiadek, Maria M.

Journal:

Pediatria Polska

Year:

2007

Language:

polish

File:

PDF, 242 KB

polish, 2007

38

Diagnosis and Management in Pitt-Hopkins Syndrome: First International Consensus Statement

Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid, Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert,

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 2.82 MB

2019

39

The impact of congenital esophageal atresia on the family functioning

Rozensztrauch, Anna, Śmigiel, Robert, Błoch, Michał, Patkowski, Dariusz

Journal:

Journal of Pediatric Nursing

Year:

2019

Language:

english

File:

PDF, 289 KB

english, 2019

40

Giant heart tumors in infants leading to sudden, unexpected death: Description of two cases

Tomasz Jurek, Magdalena Czuba, Robert Smigiel, Krzysztof Maksymowicz, Marta Rorat, Agnieszka Halon

Journal:

Pediatrics International

Year:

2011

Language:

english

File:

PDF, 1.23 MB

english, 2011

41

Znaczenie kliniczne wczesnej diagnostyki zespołu Pradera-Williego – historia trzech chorych

Stembalska, Agnieszka, Śmigiel, Robert

Journal:

Pediatria Polska

Year:

2009

Language:

polish

File:

PDF, 396 KB

polish, 2009

42

High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate

Szczaluba, Krzysztof, Nowakowska, Beata A., Sobecka, Katarzyna, Smyk, Marta, Castaneda, Jennifer, Dudkiewicz, Zofia, Kutkowska-Kazmierczak, Anna, Sasiadek, Maria M., Smigiel, Robert, Bocian, Ewa

Journal:

Year:

2015

Language:

english

File:

PDF, 1.20 MB

english, 2015

43

Studies of the cell cycle regulatory proteins P16, cyclin D1 and retinoblastoma protein in laryngeal carcinoma tissue

Krecicki, Tomasz, Smigiel, Robert, Fraczek, Marcin, Kowalczyk, Marlena, Sasiadek, Maria M.

Journal:

Journal of Laryngology & Otology

Year:

2004

Language:

english

File:

PDF, 100 KB

english, 2004

44

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome

Smigiel, Robert, Biernacka, Anna, Biela, Mateusz, Murcia-Pienkowski, Victor, Szmida, Elzbieta, Gasperowicz, Piotr, Kosinska, Joanna, Kostrzewa, Grazyna, Koppolu, Agnieszka Anna, Walczak, Anna, Wawrzut

Journal:

Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 668 KB

english, 2018

45

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

Smigiel, Robert, Landsberg, Gerd, Schilling, Maximilian, Rydzanicz, Małgorzata, Pollak, Agnieszka, Walczak, Anna, Stodolak, Anna, Stawinski, Piotr, Mierzewska, Hanna, Sasiadek, Maria M., Gruss, Oliver

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.32 MB

english, 2018

46

Erratum to: Novel insertion in exon 5 of theTCOF1gene in twin sisters with Treacher Collins syndrome

Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Robert Śmigiel, Wiesław H. Trzeciak

Journal:

Journal of Applied Genetics

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

47

MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease

Gos, Monika, Smigiel, Robert, Kaczan, Teresa, Landowska, Aleksandra, Abramowicz, Anna, Sasiadek, Malgorzata, Bal, Jerzy

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 515 KB

english, 2018

48

Novel insertion in exon 5 of theTCOF1gene in twin sisters with Treacher Collins syndrome

Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Robert Śmigiel, Wiesław H. Trzeciak

Journal:

Journal of Applied Genetics

Year:

2012

Language:

english

File:

PDF, 197 KB

english, 2012

49

Single nucleotide polymorphisms in theRETgene and their correlations with Hirschsprung disease phenotype

Robert Śmigiel, Arleta Lebioda, Dariusz Patkowski, Jerzy Czernik, Tadeusz Dobosz, Karolina Pesz, Monika Kaczmarz, Maria M. Sąiadek

Journal:

Journal of Applied Genetics

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

50

Somatic Mosaicism in Esophageal Atresia

Bednarczyk, Damian, Makowska, Izabela, Sasiadek, Maria Malgorzata, Smigiel, Robert

Journal:

American Journal of Gastroenterology

Year:

2014

Language:

english

File:

PDF, 798 KB

english, 2014

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