Works matching DE "SCHINZEL-Giedion syndrome"

Results: 16

Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.

Published in:

Clinical Case Reports, 2017, v. 5, n. 1, p. 5, doi. 10.1002/ccr3.738

By:

Hishimura, Nozomi;
Watari, Michiko;
Ohata, Hiroki;
Fuseya, Naho;
Wakiguchi, Sadae;
Tokutomi, Tomoharu;
Okuhara, Kouji;
Takahashi, Nobuhiro;
Iizuka, Susumu;
Yamamoto, Hiroshi;
Mishima, Takashi;
Fujieda, Satoko;
Kobayashi, Ryoji;
Cho, Kazutoshi;
Kuroda, Yukiko;
Kurosawa, Kenji;
Tonoki, Hidefumi

Publication type:

Article

Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Published in:

2015

By:

Pavone, Piero;
Praticò, Andrea D.;
Falsaperla, Raffaele;
Ruggieri, Martino;
Zollino, Marcella;
Corsello, Giovanni;
Neri, Giovanni

Publication type:

journal article

Unilateral Molariform Macrodont Mandibular Second Premolar: An Unusual Case Report in A Nonsyndromic Patient.

Published in:

2014

By:

BABAJI, PRASHANT;
RAMPRATAP CHAURASIA, VISHWAJIT;
KUMAR MASAMATTI, VINAY;
TIWARI, SAMARTH;
MALIK, SIDHARATH

Publication type:

Case Study

Case Report: Schinzel Giedion Syndrome.

Published in:

2018

By:

Kyaw, W.;
Noh, G.;
Truong, H.

Publication type:

Case Study

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Published in:

Journal of Genetics, 2018, v. 97, n. 1, p. 35, doi. 10.1007/s12041-017-0877-5

By:

Liu, Wei-Liang;
He, Zhi-Xu;
Li, Fang;
Ai, Rong;
Ma, Hong-Wei

Publication type:

Article

Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter.

Published in:

2017

By:

Anyanwu, Lofty-John;
Mohammad, Aminu;
Muhammad, Habeeb;
Aliyu, Ibrahim;
Abdullahi, Lawal;
Farinyaro, Aliyu;
Iya, Abdulkarim

Publication type:

Case Study

West Syndrome in a Patient With Schinzel-Giedion Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 7, p. 932, doi. 10.1177/0883073814541468

By:

Miyake, Fuyu;
Kuroda, Yukiko;
Naruto, Takuya;
Ohashi, Ikuko;
Takano, Kyoko;
Kurosawa, Kenji

Publication type:

Article

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

Published in:

PLoS Genetics, 2017, v. 13, n. 3, p. 1, doi. 10.1371/journal.pgen.1006683

By:

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, Lindsday A.;
Kayserili, Hülya;
Altunoglu, Umut;
Lapi, Elisabetta;
Uzielli, Maria Luisa;
Aracena, Mariana;
Nur, Banu G.;
Mihci, Ercan;
Moreira, Lilia M. A.;
Borges Ferreira, Viviane

Publication type:

Article

World-Renowned "Swiss" Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective.

Published in:

Children, 2023, v. 10, n. 10, p. 1668, doi. 10.3390/children10101668

By:

Huisman, Laura M.;
Huisman, Thierry A. G. M.

Publication type:

Article

Owen takes on triathlon challenge for cause close to his heart.

Published in:: Operating Theatre Journal, 2021, n. 371, p. 14
Publication type:: Article

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features.

Published in:

2017

By:

Bulut, Ozgul;
Ince, Zeynep;
Altunoglu, Umut;
Yildirim, Sukran;
Coban, Asuman

Publication type:

Case Study

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".

Published in:

Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.593446

By:

Leonardi, Emanuela;
Bettella, Elisa;
Pelizza, Maria Federica;
Aspromonte, Maria Cristina;
Polli, Roberta;
Boniver, Clementina;
Sartori, Stefano;
Milani, Donatella;
Murgia, Alessandra

Publication type:

Article

Quiz: What is your diagnosis?

Published in:

Journal of the Turkish-German Gynecological Association, 2021, v. 22, n. 1, p. 71, doi. 10.4274/jtgga.galenos.2020.2019.0208

By:

Yıldız, Gülşah Aynaoğlu;
Özmen, Sevilay;
Yapça, Ömer Erkan;
Yılmaz, Emsal Pınar Topdağı;
Al, Ragıp Atakan

Publication type:

Article

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00839-y

By:

Leone, Maria Pia;
Palumbo, Pietro;
Palumbo, Orazio;
Di Muro, Ester;
Chetta, Massimiliano;
Laforgia, Nicola;
Resta, Nicoletta;
Stella, Alessandro;
Castellana, Stefano;
Mazza, Tommaso;
Castori, Marco;
Carella, Massimo;
Bukvic, Nenad

Publication type:

Article

Teriflunomide attenuates neuroinflammation-related neural damage in mice carrying human PLP1 mutations.

Published in:

2018

By:

Groh, Janos;
Hörner, Michaela;
Martini, Rudolf

Publication type:

journal article

YKL-40 (Chitinase 3-like I) is expressed in a subset of astrocytes in Alzheimer's disease and other tauopathies.

Published in:

2017

By:

Querol-Vilaseca, Marta;
Colom-Cadena, Martí;
Pegueroles, Jordi;
Martín-Paniello, Carla San;
Clarimon, Jordi;
Belbin, Olivia;
Fortea, Juan;
Lleó, Alberto;
San Martín-Paniello, Carla

Publication type:

journal article