Works matching DE "LEOPARD syndrome"

Results: 40

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.

Published in:

Australasian Journal of Dermatology, 2017, v. 58, n. 1, p. e17, doi. 10.1111/ajd.12385

By:

Tekin, Burak;
Yucelten, Deniz;
Liu, Lu;
McGrath, John A

Publication type:

Article

Leopard syndrome: a report of five cases from one family in two generations.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 6, p. 819, doi. 10.1007/s00431-013-2243-9

By:

Begić, Fatima;
Tahirović, Husref;
Kardašević, Mediha;
Kalev, Ingrid;
Muru, Kai

Publication type:

Article

LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

Published in:

2011

By:

Carcavilla, Atilano;
Pinto, Isabel;
Muñoz-Pacheco, Rafael;
Barrio, Raquel;
Martin-Frías, Maria;
Ezquieta, Begoña;
Muñoz-Pacheco, Rafael;
Martin-Frías, Maria;
Ezquieta, Begoña

Publication type:

journal article

LEOPARD syndrome with late onset lentigines: A rarity.

Published in:

2018

By:

Nagakeerthana, Sunder;
Madhavi, Sankar;
Karthikeyan, Kaliaperumal

Publication type:

Letter to the Editor

LEOPARD syndrome with ischemic heart disease and eosinophilic pleural effusion in a teenage girl.

Published in:

2013

By:

Sachdeva, Ruchi;
Sachdeva, Sandeep;
Ghosh, Sangeeta

Publication type:

Case Study

Giant coronary artery aneurysm in a patient with LEOPARD syndrome.

Published in:

European Heart Journal Case Reports, 2019, v. 3, n. 3, p. N.PAG, doi. 10.1093/ehjcr/ytz088

By:

Bourgain, Marion;
Iriart, Xavier;
Thambo, Jean-Benoît;
Cochet, Hubert

Publication type:

Article

Syndrome LEOPARD et carcinome épidermoïde labial : présentation d'un cas.

Published in:

Médecine Buccale Chirurgie Buccale, 2012, v. 18, n. 3, p. 215, doi. 10.1051/mbcb/2012017

By:

Tabeti-Bentahar, Chérifa Faïza;
Bouzouina, Fatma;
Tabeti-Hamza, Amina Nouria

Publication type:

Article

Animals in Dermatology.

Published in:

Indian Journal of Dermatology, 2024, v. 69, n. 4, p. 333, doi. 10.4103/ijd.ijd_502_23

By:

Pandit, Vishalakshi S.;
Yelhanka, R. Rakesh

Publication type:

Article

LEOPARD syndrome with rare skeletal anomalies: A case report.

Published in:

Indian Journal of Dermatology, 2013, v. 58, n. 5, p. 497, doi. 10.4103/0019-5154.117362

By:

Kohli, Sonali;
Sharma, Yugal K.;
Dash, Kedar N.;
Kopikar, Radhika;
Chaudhari, Nitin C.

Publication type:

Article

Atypical maculopapular cutaneous mastocytosis showing a nevus spilus‐like lesion.

Published in:

Pediatric Dermatology, 2018, v. 35, n. 5, p. e306, doi. 10.1111/pde.13541

By:

Ahn, Hye‐Jin;
Park, Hyoung‐Jin;
Jeong, Ki‐Heon;
Park, Yong‐Koo;
Lee, Mu‐Hyoung

Publication type:

Article

Leopard Syndrome Presented With Hemolytic Anemia, Total Genital Prolapse And Ovarian Agenesis.

Published in:

Duzce Medical Journal, 2012, v. 14, n. 2, p. 63

By:

KUTLUCAN, Ali;
KÖSE, Seyit Ali;
KARATAŞ, Ahmet;
AYDIN, Leyla Yılmaz;
COŞKUN, Hülya;
ERKAN, Müşerref;
KIR, Seher;
TURAN, Hakan

Publication type:

Article

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-44

By:

Santoro, Claudia;
Pacileo, Giuseppe;
Limongelli, Giuseppe;
Scianguetta, Saverio;
Giugliano, Teresa;
Piluso, Giulio;
Della Ragione, Fulvio;
Cirillo, Mario;
Mirone, Giuseppe;
Perrotta, Silverio

Publication type:

Article

LEOPARD syndrome: You could be the first one to diagnose!

Published in:

2015

By:

Urs, Pallavi;
Konde, Sapna;
Chouta, Nidhi;
Raj, Sunil

Publication type:

Case Study

PZR Coordinates Shp2 Noonan and LEOPARD Syndrome Signaling in Zebrafish and Mice.

Published in:

Molecular & Cellular Biology, 2014, v. 34, n. 15, p. 2874, doi. 10.1128/MCB.00135-14

By:

Overman, Jeroen Paardekooper;
Jae-Sung Yi;
Bonetti, Monica;
Soulsby, Matthew;
Preisinger, Christian;
Stokes, Matthew P.;
Li Hui;
Silva, Jeffrey C.;
Overvoorde, John;
Giansanti, Piero;
Heck, Albert J. R.;
Kontaridis, Maria I.;
den Hertog, Jeroen;
Bennett, Anton M.

Publication type:

Article

P337 Homozygous founder mutation in desmocollin-2 causes arrhythmogenic cardiomyopathy.

Published in:

Cardiovascular Research, 2014, v. 103, n. suppl_1, p. S61, doi. 10.1093/cvr/cvu091.24

By:

Lorenzon, A;
Bauce, B;
Rigato, I;
Pilichou, K;
De Bortoli, M;
Calore, M;
Basso, C;
Corrado, D;
Thiene, G;
Rampazzo, A

Publication type:

Article

C- Raf deficiency leads to hearing loss and increased noise susceptibility.

Published in:

Cellular & Molecular Life Sciences, 2015, v. 72, n. 20, p. 3983, doi. 10.1007/s00018-015-1919-x

By:

Iriarte Rodríguez, Rocío;
Magariños, Marta;
Pfeiffer, Verena;
Rapp, Ulf;
Varela-Nieto, Isabel

Publication type:

Article

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

Published in:

2015

By:

Spatola, Marianna;
Wider, Christian;
Kuntzer, Thierry;
Croquelois, Alexandre

Publication type:

Case Study

MULTIPLE LENTIGINES SYNDROME - LEOPARD SYNDROME.

Published in:

European Journal of Pediatric Dermatology, 2015, v. 25, n. 2, p. 127

By:

Bonifazi, E.

Publication type:

Article

Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes.

Published in:

Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2018, v. 35, n. 5, p. 437, doi. 10.5114/pdia.2017.70330

By:

Pokrowiecki, Rafał;
Chomik, Piotr;
Borowiec, Maciej;
Dowgierd, Krzysztof;
Starzyńska, Anna

Publication type:

Article

A RARE CASE OF LEFT VENTRICULAR NONCOMPACTION IN LEOPARD SYNDROME.

Published in:

2018

By:

KYEHWAN KIM;
MIN GYU KANG;
HYUN WOONG PARK;
JIN-SIN KOH;
JEONG RANG PARK;
SEOK-JAE HWANG;
JIN-YONG HWANG

Publication type:

Case Study

Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.

Published in:

Science Signaling, 2018, v. 11, n. 522, p. 1, doi. 10.1126/scisignal.aao1591

By:

Zheng, Hong;
Yu, Wen-Mei;
Waclaw, Ronald R.;
Kontaridis, Maria I.;
Neel, Benjamin G.;
Qu, Cheng-Kui

Publication type:

Article

Clinical, pathological and dermoscopic characteristics of cutaneous lesions in LEOPARD syndrome.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2018, v. 32, n. 3, p. e100, doi. 10.1111/jdv.14573

By:

Banuls, J.;
Álvarez‐chinchilla, P. J.;
Lucas, A.;
Poveda, I.;
Encabo‐durán, B.;
Niveiro, M.;
Nagore, E.;
Zaballos, P.

Publication type:

Article

Lentiginous phenotypes caused by diverse pathogenic genes ( SASH1 and PTPN11): clinical and molecular discrimination.

Published in:

Clinical Genetics, 2016, v. 90, n. 4, p. 372, doi. 10.1111/cge.12728

By:

Zhang, J.;
Cheng, R.;
Liang, J.;
Ni, C.;
Li, M.;
Yao, Z.

Publication type:

Article

Malignancy in Noonan syndrome and related disorders.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 516, doi. 10.1111/cge.12568

By:

Smpokou, P.;
Zand, D.J.;
Rosenbaum, K.N.;
Summar, M.L.

Publication type:

Article

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 138, doi. 10.1111/cge.12116

By:

Nowaczyk, M.J.M.;
Thompson, B.A.;
Zeesman, S.;
Moog, U.;
Sanchez‐Lara, P.A.;
Magoulas, P.L.;
Falk, R.E.;
Hoover‐Fong, J.E.;
Batista, D.A.S.;
Amudhavalli, S.M.;
White, S.M.;
Graham, G.E.;
Rauen, K.A.

Publication type:

Article

Phosphoproteomics-Mediated Identification of Fer Kinase as a Target of Mutant Shp2 in Noonan and LEOPARD Syndrome.

Published in:

PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106682

By:

Paardekooper Overman, Jeroen;
Preisinger, Christian;
Prummel, Karin;
Bonetti, Monica;
Giansanti, Piero;
Heck, Albert;
Hertog, Jeroen den

Publication type:

Article

Generalised lentiginosis and café noir spots leading to a diagnosis of LEOPARD syndrome.

Published in:

2018

By:

Guliani, Ankur;
Kumar, Sheetanshu;
De, Dipankar;
Aggarwal, Divya;
Radotra, Bishan Dass

Publication type:

journal article

SINDROMUL LEOPARD. CAZURI FAMILIALE.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 1, p. 109

By:

Iurian, Sorin Ioan;
Brunner, Han;
Yntema, Helger;
Mehedințu, Bogdan

Publication type:

Article

LEOPARD SYNDROME. FAMILIAL CASES.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2014, v. 63, n. 1, p. 57

By:

Iurian, Sorin Ioan;
Brunner, Han;
Yntema, Helger;
Mehedintu, Bogdan

Publication type:

Article

Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature.

Published in:

2015

By:

Baykan, Ali;
Olgar, Şeref;
Argun, Mustafa;
Özyurt, Abdullah;
Pamukçu, Özge;
Üzüm, Kazım;
Narin, Nazmi

Publication type:

Case Study

PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Published in:

2006

By:

Digilio, M. Cristina;
Sarkozy, Anna;
Pacileo, Giuseppe;
Limongelli, Giuseppe;
Marino, Bruno;
Dallapiccola, Bruno

Publication type:

journal article

Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation.

Published in:

Acta Dermato-Venereologica, 2015, v. 95, n. 8, p. 978, doi. 10.2340/00015555-2123

By:

Sei-ichiro MOTEGI;
Yoko YOKOYAMA;
Sachiko OGINO;
Kazuya YAMADA;
Akihiko UCHIYAMA;
PERERA, Buddhini;
Yuko TAKEUCHI;
Hiroshi OHNISHI;
Osamu ISHIKAWA

Publication type:

Article

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 5, p. 4023, doi. 10.3892/mmr.2016.5760

By:

JIA ZHANG;
MING LI;
ZHIRONG YAO

Publication type:

Article

Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

Published in:

Molecular Medicine Reports, 2016, v. 14, n. 3, p. 2639, doi. 10.3892/mmr.2016.5547

By:

JIA ZHANG;
JINWEN SHEN;
RUHONG CHENG;
CHENG NI;
JIANYING LIANG;
MING LI;
ZHIRONG YAO

Publication type:

Article

International publications of authors from Bosnia and Herzegovina in Current Contents indexed publications in the first half of 2014.

Published in:

2014

By:

Tanović, Nerma

Publication type:

Bibliography

Two cases of LEOPARD syndrome -- RAF1 mutations firstly described in children.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 6, p. 687

By:

Kuburović, Vladimir;
Vukomanović, Vladislav;
Carcivilla, Atilano;
Ezquieta-Zubicaray, Begona;
Kuburović, Nina

Publication type:

Article

Erratum: LEOPARD syndrome and multiple granular cell tumors: An underreported association?

Published in:: 2016
Publication type:: corrected article

LEOPARD syndrome and multiple granular cell tumors: An underreported association?

Published in:

2016

By:

Hernández Aragüés, Ignacio;
Campos Domínguez, Minia;
Parra Blanco, Verónica;
Ezquieta Zubicaray, Begoña;
Suárez Fernández, Ricardo;
Aragüés, Ignacio Hernÿndez;
Domínguez, Minia Campos;
Blanco, Verónica Parra;
Zubicaray, Begoña Ezquieta;
Fernández, Ricardo Suárez

Publication type:

Letter

LEOPARD syndrome with Wolff-Parkinson-White syndrome on electrocardiography.

Published in:

2013

By:

Ghosh, Sangita;
Chaudhuri, Soumik;
Jain, Vijay Kumar

Publication type:

Letter to the Editor

Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.

Published in:

Archives of Dermatological Research, 2015, v. 307, n. 10, p. 891, doi. 10.1007/s00403-015-1597-4

By:

Nemes, Edina;
Farkas, Katalin;
Kocsis-Deák, Barbara;
Drubi, Andrea;
Sulák, Adrienn;
Tripolszki, Kornélia;
Dósa, Piroska;
Ferenc, Lakatos;
Nagy, Nikoletta;
Széll, Márta

Publication type:

Article