Works matching DE "WOLF-Hirschhorn syndrome"

Results: 46

Excellent response to levetiracetam in epilepsy with Wolf-Hirschhorn syndrome.

Published in:

2016

By:

Karalok, Zeynep;
Arhan, Ebru;
Erdogan, Kadri;
Gurkas, Esra

Publication type:

Letter

EP10.23: Application of 3D ultrasonography in analysis of fetal anomalies in Wolf-Hirschhorn syndrome.

Published in:

2016

By:

Jurisic, Z.;
Jurisic, A.;
Dinic, D.;
Jankovic Raznatovic, S.

Publication type:

journal article

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 6, p. 849, doi. 10.1111/epi.12617

By:

Zollino, Marcella;
Orteschi, Daniela;
Ruiter, Mariken;
Pfundt, Rolph;
Steindl, Katharina;
Cafiero, Concetta;
Ricciardi, Stefania;
Contaldo, Ilaria;
Chieffo, Daniela;
Ranalli, Domiziana;
Acquafondata, Celeste;
Murdolo, Marina;
Marangi, Giuseppe;
Asaro, Alessia;
Battaglia, Domenica

Publication type:

Article

Epilepsy in Wolf-Hirschhorn Syndrome (4p-).

Published in:

Epilepsia (Series 4), 2005, v. 46, n. 1, p. 150, doi. 10.1111/j.0013-9580.2005.02804.x

By:

Kagitani-Shimono, Kuriko;
Imai, Katsumi;
Otani, Kazumasa;
Kamio, Noriko;
Okinaga, Takeshi;
Toribe, Yasuhisa;
Suzuki, Yasuhiro;
Ozono, Keiichi

Publication type:

Article

Inflammatory Myofibroblastic Bladder Tumor in a Patient with Wolf-Hirschhorn Syndrome.

Published in:

Case Reports in Urology, 2013, p. 1, doi. 10.1155/2013/675059

By:

Marte, Antonio;
Indolfi, Paolo;
Ficociello, Carmine;
Russo, Daniela;
Oreste, Matilde;
Bottigliero, Gaetano;
Gualdiero, Giovanna;
Barone, Ciro;
Vigliar, Elena;
Indolfi, Cristiana;
Casale, Fiorina

Publication type:

Article

Lung tumor-associated dendritic cell-derived resistin promoted cancer progression by increasing Wolf–Hirschhorn syndrome candidate 1/Twist pathway.

Published in:

Carcinogenesis, 2013, v. 34, n. 11, p. 2600, doi. 10.1093/carcin/bgt281

By:

Kuo, Chih-Hsin;
Chen, Kuei-Fang;
Chou, Shah-Hwa;
Huang, Ya-Fang;
Wu, Cheng-Ying;
Cheng, Da-En;
Chen, Yu-Wen;
Yang, Chih-Jen;
Hung, Jen-Yu;
Huang, Ming-Shyan

Publication type:

Article

Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33.

Published in:

Alternative Therapies in Health & Medicine, 2023, v. 29, n. 8, p. 907

By:

Huili Luo;
Ruijie Chang;
Fangfang Liu;
Xia Gao

Publication type:

Article

Positional Central Sleep Apnea in a Child with Cervical Instability.

Published in:

2021

By:

Powell, Weston T.;
MacKintosh, Erin W.;
Del Rosso, Lourdes;
Chen, Maida L.

Publication type:

journal article

Microarray analysis of unbalanced translocation in Wolf- Hirschhorn syndrome.

Published in:

Pediatrics International, 2013, v. 55, n. 3, p. 368, doi. 10.1111/j.1442-200X.2012.03684.x

By:

Dai, Ying;
Yang, Jing;
Chen, Yuanyuan;
Bao, Liming;
Cheng, Qian

Publication type:

Article

A Case of Wolf-Hirschhorn Syndrome and Hypoplastic Left Heart Syndrome.

Published in:

2013

By:

Elten, Kelley;
Sawyer, Taylor;
Lentz-Kapua, Sarah;
Kanis, Adam;
Studer, Matthew

Publication type:

Report

Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.

Published in:

2018

By:

Luo, Aixiang;
Li, Haiyu;
Cheng, Dehua;
Du, Juan;
Lin, Ge;
Tan, Yue-Qiu;
Yuan, Shimin;
Zhang, Yang;
Yang, Chuanchun;
Zhang, Wenyong

Publication type:

Case Study

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0330-8

By:

Šumanović-Glamuzina, Darinka;
Lozić, Bernarda;
Iwanowski, Piotr S.;
Zemunik, Tatijana;
Bilinovac, Zeljka;
Stasiewicz-Jarocka, Beata;
Panasiuk, Barbara;
Midro, Alina T.

Publication type:

Article

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Published in:

BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0251-5

By:

Iype, Thomas;
Alakbarzade, Vafa;
Iype, Mary;
Singh, Royana;
Sreekantan-Nair, Ajith;
Chioza, Barry A.;
Mohapatra, Tribhuvan M.;
Baple, Emma L.;
Patton, Michael A.;
Warner, Thomas T.;
Proukakis, Christos;
Kulkarni, Abhi;
Crosby, Andrew H.

Publication type:

Article

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

Published in:

2018

By:

Xing, Ya;
Holder, Jimmy Lloyd;
Liu, Yong;
Yuan, Meizhen;
Sun, Qi;
Qu, Xiaoxing;
Deng, Linbei;
Zhou, Jia;
Yang, Yingjun;
Guo, Ming;
Cheung, Sau-Wai;
Sun, Luming;
Holder, Jimmy Lloyd Jr

Publication type:

journal article

Chromosomal deletion syndromes: common types, causes and detection methods.

Published in:

Journal of Applied Health Sciences, 2023, v. 9, n. 2, p. 247, doi. 10.24141/1/9/2/13

By:

Strujić, Anđela;
Kocijan, Ivna

Publication type:

Article

Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports.

Published in:

Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/878796

By:

Shethq, F.;
Akinde, O. R.;
Datar, C.;
Adeteye, O. V.;
Sheth, J.

Publication type:

Article

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.

Published in:

Molecular Autism, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13229-015-0015-2

By:

Tabet, Anne-Claude;
Verloes, Alain;
Pilorge, Marion;
Delaby, Elsa;
Delorme, Richard;
Nygren, Gudrun;
Devillard, Françoise;
Gérard, Marion;
Passemard, Sandrine;
Héron, Delphine;
Siffroi, Jean-Pierre;
Jacquette, Aurelia;
Delahaye, Andrée;
Perrin, Laurence;
Dupont, Céline;
Aboura, Azzedine;
Bitoun, Pierre;
Coleman, Mary;
Leboyer, Marion;
Gillberg, Christopher

Publication type:

Article

Wolf-Hirschhorn Syndrome with Epibulbar Dermoid: An Unusual Association in a Patient with 4p Deletion and Functional Xp Disomy.

Published in:

Cytogenetic & Genome Research, 2017, v. 150, n. 1, p. 17, doi. 10.1159/000452237

By:

Bragagnolo, Silvia;
Colovati, Mileny E.S.;
Guilherme, Roberta S.;
Dantas, anelisa G.;
de Souza, Malú Zamariolli;
de Soares, Maria F.;
Melaragno, Maria I.;
Perez, ana B.

Publication type:

Article

Wolf–Hirschhorn syndrome– two case-study reports focusing particularly on long-term survival.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 3, p. 228, doi. 10.1111/j.1365-2788.2005.00639.x

By:

Lopes, O.;
Barton, G.;
Morgan, J.

Publication type:

Article

Airway Management in a Patient with Wolf-Hirschhorn Syndrome.

Published in:

2016

By:

Gamble, John F.;
Kurian, Dinesh J.;
Udani, Andrea G.;
Greene, Nathaniel H.

Publication type:

Case Study

Molecular Mechanisms of Leucine Zipper EF-Hand Containing Transmembrane Protein-1 Function in Health and Disease.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 2, p. 286, doi. 10.3390/ijms20020286

By:

Lin, Qi-Tong;
Stathopulos, Peter B.

Publication type:

Article

Prenatal diagnosis of Wolf-Hirschhorn syndrome: ultrasonography and genetics.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2013, v. 26, n. 9, p. 941, doi. 10.3109/14767058.2013.765855

By:

Ikonomou, Thomas;
Antsaklis, Panos;
Daskalakis, Georgios;
Sindos, Michael;
Papantoniou, Nikolaos;
Kosmaidou, Zoi;
Antsaklis, Aris

Publication type:

Article

Wolf-Hirschhorn syndrome - a case report.

Published in:

2017

By:

Bulak, Halyna;
Kopanska, Dzwenyslava

Publication type:

Case Study

RARE CASE OF WOLF-HIRSCHHORN INVOLVING THE GENES PIGG AND PAOX.

Published in:

2020

By:

DUARTE CABRAL, LAÍS;
ARDISON, MONIQUE JARETTA;
DE ANDRADE MACHADO, ROBERTA;
ALBERGARIA, VINÍCIUS DEL GAUDIO;
SOARES, JAQUELINE MELO;
OLIVEIRA, MARIANA ANGELOZZI;
PIRES, CATARINA AMORIN BACCARINI;
MARTINHAGO, CIRO DRESCH;
VALADÃO, ANALINA FURTADO

Publication type:

Case Study

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.

Published in:

2017

By:

Deeb, Asma

Publication type:

Case Study

Greek Warrior Helmet Facies (Wolf-hirschhorn Syndrome).

Published in:

2014

By:

Biswas, P.;
Choudhury, R.;
Gayen, S.;
Guha, D.;
Roy, S.;
Dasgupta, M. K.

Publication type:

Case Study

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 4, p. 464, doi. 10.1038/ejhg.2013.192

By:

Andersen, Erica F;
Carey, John C;
Earl, Dawn L;
Corzo, Deyanira;
Suttie, Michael;
Hammond, Peter;
South, Sarah T

Publication type:

Article

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 1, p. 33, doi. 10.1038/ejhg.2011.135

By:

Hammond, Peter;
Hannes, Femke;
Suttie, Michael;
Devriendt, Koen;
Vermeesch, Joris Robert;
Faravelli, Francesca;
Forzano, Francesca;
Parekh, Susan;
Williams, Steve;
McMullan, Dominic;
South, Sarah T;
Carey, John C;
Quarrell, Oliver

Publication type:

Article

Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168

By:

Engbers, Hannelie;
van der Smagt, Jasper J;
van ‘t Slot, Ruben;
Vermeesch, Joris R.;
Hochstenbach, Ron;
Poot, Martin

Publication type:

Article

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201915

By:

South, Sarah T.;
Whitby, Heidi;
Battaglia, Agatino;
Carey, John C.;
Brothman, Arthur R.

Publication type:

Article

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899

By:

Flipsen-ten Berg, Klara;
van Hasselt, Peter M.;
Eleveld, Marc J.;
van der Wijst, Suzanne E.;
Hol, Frans A.;
de Vroede, Monique A. M.;
Beemer, Frits A.;
Hochstenbach, P. F. Ron;
Poot, Martin

Publication type:

Article

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 10, p. 797, doi. 10.1038/sj.ejhg.5201203

By:

Zollino, Marcella;
Lecce, Rosetta;
Selicorni, Angelo;
Murdolo, Marina;
Mancuso, Irene;
Marangi, Giuseppe;
Zampino, Giuseppe;
Garavelli, Livia;
Ferrarini, Alessandra;
Rocchi, Mariano;
Opitz, John M;
Neri, Giovanni

Publication type:

Article

Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 519, doi. 10.1038/sj.ejhg.5200498

By:

Wieczorek, Dagmar;
Krause, Mario;
Majewski, Frank;
Albrecht, Beate;
Horn, Denise;
Riess, Olaf;
Gillessen-Kaesbach, Gabriele

Publication type:

Article

Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome.

Published in:

2017

By:

Rutter, Sara;
Morotti, Raffaella A;
Peterec, Steven;
Gallagher, Patrick G.

Publication type:

Case Study

Single port laparoscopic splenectomy for wandering spleen with splenomegaly in a patient with Wolf-Hirschhorn syndrome.

Published in:

Journal of Minimal Access Surgery, 2017, v. 13, n. 2, p. 135, doi. 10.4103/0972-9941.195567

By:

Zorron, Ricardo;
Cunha, Silvio Henriques;
Barreto, Mariana Caetano;
Phillips, Henrique Neubarth

Publication type:

Article

Clinical characterization and proposed mechanism of juvenile glaucoma—A patient with a chromosome 4p deletion, Wolf-Hirschhorn Syndrome.

Published in:

Ophthalmic Genetics, 2010, v. 31, n. 3, p. 135, doi. 10.3109/13816810.2010.486775

By:

Curtin, Jeremy;
Moloney, Greg;
Grigg, John;
Sharota Franzco, Dorian

Publication type:

Article

Growth charts for Wolf-Hirschhorn syndrome (0–4 years of age).

Published in:

European Journal of Pediatrics, 2008, v. 167, n. 7, p. 807, doi. 10.1007/s00431-007-0595-8

By:

Antonius, T.;
Draaisma, J.;
Levtchenko, E.;
Knoers, N.;
Renier, W.;
Van Ravenswaaij, C.

Publication type:

Article

LETM1 is required for mitochondrial homeostasis and cellular viability.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 5, p. 3367

By:

Li, Yuwen;
Tran, Quangdon;
Shrestha, Robin;
Piao, Longzhen;
Park, Sungjin;
Park, Jisoo;
Park, Jongsun

Publication type:

Article

PERINATALNA OPIEKA PALIATYWNA - OPIS DWÓCH PRZYPADKÓW CHORYCH Z ZESPOŁEM WOLFA-HIRSCHHORNA.

Published in:

Przeglad Pediatryczny, 2010, v. 40, n. 4, p. 249

By:

Korzeniewska-Eksterowicz, Aleksandra;
PrzysŁo, ŀukasz;
Nowicki, Grzegorz;
Stolarska, Malgorzata;
MŁynarski, Wojciech

Publication type:

Article

Wolf-Hirschhorn Syndrome; Oro-Dental Manifestations and Management.

Published in:

2009

By:

T., Roberts;
L. X. G., Stephen;
K., Fieggen;
P., Beighton

Publication type:

Case Study

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review.

Published in:

2021

By:

Gavril, Eva-Cristiana;
Luca, Alina Costina;
Curpan, Alexandrina-Stefania;
Popescu, Roxana;
Resmerita, Irina;
Panzaru, Monica Cristina;
Butnariu, Lacramioara Ionela;
Gorduza, Eusebiu Vlad;
Gramescu, Mihaela;
Rusu, Cristina

Publication type:

Case Study

Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0190-z

By:

WeiQiang Liu;
HuiMin Zhang;
Jian Wang;
GuoJiu Yu;
WenJun Qiu;
ZhiHua Li;
Min Chen;
Kwong Wai Choy;
XiaoFang Sun

Publication type:

Article

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.

Published in:

2014

By:

Matoso, Eunice;
Ramos, Fabiana;
Ferrão, José;
Pires, Luís M.;
Mascarenhas, Alexandra;
Melo, Joana B.;
Carreira, Isabel M.

Publication type:

Case Study

Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.

Published in:

Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-45

By:

Qi Yao;
Liu Wang;
Bing Yao;
Hongliu Gao;
Weiwei Li;
Xinyi Xia;
Qinghua Shi;
Yingxia Cui

Publication type:

Article

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

Published in:: 2012
Publication type:: Case Study

LETM1-dependent mitochondrial Ca<sup>2+</sup> flux modulates cellular bioenergetics and proliferation.

Published in:

FASEB Journal, 2014, v. 28, n. 11, p. 4936, doi. 10.1096/fj.14-256453

By:

Doonan, Patrick J.;
Chandramoorthy, Harish C.;
Hoffman, Nicholas E.;
Xueqian Zhang;
Cárdenas, César;
Shanmughapriya, Santhanam;
Rajan, Sudarsan;
Vallem, Sandhya;
Xiongwen Chen;
Foskett, J. Kevin;
Cheung, Joseph Y.;
Houser, Steven R.;
Madesh, Muniswamy

Publication type:

Article