Works matching DE "DE Lange's syndrome"

Results: 151

Cornelia de Lange syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S069
Publication type:: Article

Anaesthesia recommendations for Cornelia de Lange syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2021, v. 62, n. 3, p. S69, doi. 10.19224/ai2021.S069

By:

Ramos, Feliciano;
Bisgaard, Anne-Marie

Publication type:

Article

The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome.

Published in:

Journal of Intellectual Disability Research, 2005, v. 49, n. 4, p. 269, doi. 10.1111/j.1365-2788.2005.00649.x

By:

Moss, J.;
Oliver, C.;
Hall, S.;
Arron, K.;
Sloneem, J.;
Petty, J.

Publication type:

Article

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 4, p. 505, doi. 10.1038/sj.ejhg.5201776

By:

Bhuiyan, Zahurul A.;
Stewart, Helen;
Redeker, Egbert J.;
Mannens, Marcel M. A. M.;
Hennekam, Raoul C. M.

Publication type:

Article

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:: 2015
Publication type:: Correction Notice

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:

2015

By:

Selenti, Nikoletta;
Tzetis, Maria;
Braoudaki, Maria;
Giannikou, Krinio;
Kitsiou-Tzeli, Sofia;
Fryssira, Helen

Publication type:

Case Study

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0174-z

By:

Selenti, Nikoletta;
Tzetis, Maria;
Braoudaki, Maria;
Gianikou, Krinio;
Kitsiou-Tzeli, Sofia;
Fryssira, Helen

Publication type:

Article

A systematic review of the management and outcomes of cecal and appendiceal volvulus in children.

Published in:

2018

By:

Miura da Costa, Karina;
Saxena, Amulya Kumar

Publication type:

journal article

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.

Published in:

2019

By:

Tang, Hui;
Guo, Jing;
Linpeng, Siyuan;
Wu, Lingqian

Publication type:

journal article

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.

Published in:

2017

By:

Avagliano, Laura;
Grazioli, Paolo;
Mariani, Milena;
Bulfamante, Gaetano P.;
Selicorni, Angelo;
Massa, Valentina

Publication type:

journal article

Granulomatous rosacea in Cornelia de Lange syndrome.

Published in:

2009

By:

Eghlileb, Ahmed M.;
Finlay, Andrew Y.

Publication type:

Letter

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.

Published in:

Clinical Case Reports, 2017, v. 5, n. 8, p. 1277, doi. 10.1002/ccr3.1010

By:

Infante, Elena;
Alkorta‐Aranburu, Gorka;
El‐Gharbawy, Areeg

Publication type:

Article

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.

Published in:

BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/8742939

By:

Teresa-Rodrigo, María E.;
Eckhold, Juliane;
Puisac, Beatriz;
Pozojevic, Jelena;
Parenti, Ilaria;
Baquero-Montoya, Carolina;
Gil-Rodríguez, María C.;
Braunholz, Diana;
Dalski, Andreas;
Hernández-Marcos, María;
Ayerza, Ariadna;
Bernal, María L.;
Ramos, Feliciano J.;
Wieczorek, Dagmar;
Gillessen-Kaesbach, Gabriele;
Pié, Juan;
Kaiser, Frank J.

Publication type:

Article

An eighteen month-old infant with Cornelia de Lange syndrome: a case report.

Published in:

2015

By:

saeidi, Reza;
saeidi, Maryam;
adineh, Majtaba

Publication type:

Case Study

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94958-z

By:

Latorre-Pellicer, Ana;
Gil-Salvador, Marta;
Parenti, Ilaria;
Lucia-Campos, Cristina;
Trujillano, Laura;
Marcos-Alcalde, Iñigo;
Arnedo, María;
Ascaso, Ángela;
Ayerza-Casas, Ariadna;
Antoñanzas-Pérez, Rebeca;
Gervasini, Cristina;
Piccione, Maria;
Mariani, Milena;
Weber, Axel;
Kanber, Deniz;
Kuechler, Alma;
Munteanu, Martin;
Khuller, Katharina;
Bueno-Lozano, Gloria;
Puisac, Beatriz

Publication type:

Article

Cornelia de Lange syndrome.

Published in:

British Journal of Dermatology, 1976, v. 95, n. 6, p. 37

By:

MacDonald, D. M.

Publication type:

Article

Low speech rate but high gesture rate during conversational interaction in people with Cornelia de Lange syndrome.

Published in:

Journal of Intellectual Disability Research, 2021, v. 65, n. 6, p. 601, doi. 10.1111/jir.12829

By:

Pearson, E.;
Nielsen, E.;
Kita, S.;
Groves, L.;
Nelson, L.;
Moss, J.;
Oliver, C.

Publication type:

Article

Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes.

Published in:

Journal of Intellectual Disability Research, 2020, v. 64, n. 2, p. 117, doi. 10.1111/jir.12702

By:

Heald, M.;
Adams, D.;
Oliver, C.

Publication type:

Article

Attenuated behaviour in Cornelia de Lange and fragile X syndromes.

Published in:

Journal of Intellectual Disability Research, 2018, v. 62, n. 6, p. 486, doi. 10.1111/jir.12481

By:

Bell, L.;
Oliver, C.;
Wittkowski, A.;
Moss, J.;
Hare, D.

Publication type:

Article

Cornelia de lange syndrome and psoriasis: Report of a case.

Published in:

2018

By:

Lubkov, Andrea;
Uraga, Veronica;
Briones, Maria-Cecilia;
Uraga, Enrique

Publication type:

Case Study

Aesthetic and functional management of a patient with Cornelia de Lange syndrome.

Published in:

Contemporary Clinical Dentistry, 2012, v. 3, n. Supp 1, p. S86, doi. 10.4103/0976-237X.95113

By:

JOHNS, DEXTON ANTONY;
BHONSALE, DNYANESH L.;
SHIVASHANKER, V. Y.;
JOHNS, MANU

Publication type:

Article

Brachman de Lange syndrome.

Published in:

2010

By:

VERMA, LEENA;
PASSI, SIDHI;
GAUBA, KRISHAN

Publication type:

Case Study

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature.

Published in:

2014

By:

Shenoy, Bhamy Hariprasad;
Gupta, Amit;
Sachdeva, Virender;
Kekunnaya, Ramesh

Publication type:

Case Study

A Zebrafish Model of Roberts Syndrome Reveals That Esco2 Depletion Interferes with Development by Disrupting the Cell Cycle.

Published in:

PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020051

By:

Mönnich, Maren;
Kuriger, Zoë;
Print, Cristin G.;
Horsfield, Julia A.

Publication type:

Article

February 2010 Case Report: This Is a Case of Cornelia De Lange Syndrome.

Published in:

2012

By:

Abdalla, Ebtesam Mohamed;
Hallioglu., Olgu;
Akbas, Etem

Publication type:

Letter

Cohesin loading factor Nipbl localizes to chromosome axes during mammalian meiotic prophase.

Published in:

Cell Division, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1747-1028-8-12

By:

Kuleszewicz, Katarzyna;
Xiangwei Fu;
Kudo, Nobuaki R.

Publication type:

Article

Early Intervention in Children (0-6 Years) with a Rare Developmental Disability: The Occupational Therapy Role.

Published in:

2014

By:

Dall'Alba, Lucy;
Gray, Marion;
Williams, Gary;
Lowe, Sharon

Publication type:

Journal Article

Behaviour in Cornelia de Lange syndrome: a systematic review.

Published in:

2017

By:

Mulder, Paul A;
Huisman, Sylvia A;
Hennekam, Raoul C;
Oliver, Chris;
Balkom, Ingrid D C;
Piening, Sigrid

Publication type:

journal article

Autism spectrum disorder and attention-deficit-hyperactivity disorder in Down syndrome.

Published in:

2017

By:

Moss, Joanna F

Publication type:

journal 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

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.

Published in:

2018

By:

Hei, Mingyan;
Gao, Xiangyu;
Wu, Lingqian

Publication type:

journal article

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.

Published in:

2016

By:

Santoro, Claudia;
Apicella, Andrea;
Casale, Fiorina;
Manna, Angela La;
Di Martino, Martina;
Di Pinto, Daniela;
Indolfi, Cristiana;
Perrotta, Silverio;
La Manna, Angela

Publication type:

journal article

Looking through a glass darkly, I then seeing face to face.

Published in:

JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2012, v. 25, n. 4, p. 65, doi. 10.1097/01720610-201204000-00016

By:

Maurer, Brian T.

Publication type:

Article

Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.

Published in:

Child's Nervous System, 2015, v. 31, n. 1, p. 141, doi. 10.1007/s00381-014-2504-6

By:

Chico-Ponce de León, Fernando;
Gordillo-Domínguez, Luis;
González-Carranza, Vicente;
Torres-García, Samuel;
García-Delgado, Constanza;
Sánchez-Boiso, Adriana;
Arenas-Huertero, Francisco;
Perezpeña-Diazconti, Mario;
Eguía-Aguilar, Pilar;
Baqueiro-Hernández, César;
Buenrostro-Márquez, Guillermo;
Martínez-Rodríguez, Sonia;
Dhellemmes, Patrick;
Castro-Sierra, Eduardo

Publication type:

Article

Our Outpatient Anesthesia Management in a Pediatric Case with Cornelia de Lange Syndrome.

Published in:

Turkiye Klinikleri Journal of Anesthesiology Reanimation, 2022, v. 20, n. 2, p. 77, doi. 10.5336/anesthe.2022-89816

By:

ARSLAN, Kadir;
GÜLLEROĞLU, Aykan

Publication type:

Article

Diphenhydramine-Refractory Antipsychotic-Induced Dystonia in an Adolescent Male With Cornelia de Lange Syndrome.

Published in:

2019

By:

Small, Stephen M.;
Bacher, Rachel S.

Publication type:

Case Study

Embedding Public Engagement in Biomedical Research: a Pilot Experience in the Field of Rare Genetic Disorders.

Published in:

Journal of Developmental & Physical Disabilities, 2020, v. 32, n. 4, p. 575, doi. 10.1007/s10882-019-09705-0

By:

Borghi, Lidia;
Vegni, Elena;
Tajè, Silvia;
Selicorni, Angelo;
Massa, Valentina

Publication type:

Article

Behavior Problems in Individuals with Cornelia de Lange Syndrome: Population-Specific Validation of the Behavior Problem Inventory-01.

Published in:

Journal of Developmental & Physical Disabilities, 2013, v. 25, n. 5, p. 505, doi. 10.1007/s10882-012-9329-6

By:

Rojahn, Johannes;
Barnard-Brak, Lucy;
Richman, David;
Dotson, Wesley;
Medeiros, Kristen;
Wei, Tianlan;
Abby, Layla

Publication type:

Article

What Syndrome Is This?

Published in:

Pediatric Dermatology, 2007, v. 24, n. 4, p. 421, doi. 10.1111/j.1525-1470.2007.00466.x

By:

Pozo, Jesús del;
Rodríguez, Ignacio;
Martínez, Walter;
Almagro, Manuel;
Fonseca, Eduardo

Publication type:

Article

Ulerythema Ophryogenes in Cornelia de Lange Syndrome.

Published in:

Pediatric Dermatology, 2002, v. 19, n. 1, p. 42, doi. 10.1046/j.1525-1470.2002.00003.x

By:

Florez, Angeles;
Fernandez-Redondo, Virginia;
Toribio, Jaime

Publication type:

Article

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 3, p. 165, doi. 10.1038/jhg.2014.113

By:

Feng, Lei;
Zhou, Daizhan;
Zhang, Zhou;
Liu, Yun;
Yang, Yabo

Publication type:

Article

Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 536, doi. 10.1038/jhg.2014.60

By:

Feng, Lei;
Zhou, Daizhan;
Zhang, Zhou;
Liu, Yun;
Yang, Yabo

Publication type:

Article

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 9, p. 479, doi. 10.1038/jhg.2014.68

By:

Sun, Liangdan

Publication type:

Article

Unpredictable drug reaction in a child with Cornelia de Lange syndrome.

Published in:

2015

By:

Stevic, Marija;
Milojevic, Irina;
Bokun, Zlatko;
Simic, Dusica

Publication type:

Report

Cornelia de Lange syndrome.

Published in:

2013

By:

Reddy, H. Babul;
Neelaveni, K.;
Kumar, K. V. S. Hari

Publication type:

Letter

A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study.

Published in:

2016

By:

HOSSEININEJAD, SEYYED-MOHSEN;
BAZRAFSHAN, BEHNAZ;
ALAEE, EHSAN

Publication type:

Case Study

Dental Management of Cornelia de Lange Syndrome: A Rare Case Report.

Published in:

2015

By:

SANDHU, MEERA;
NAGPAL, MEHAK;
GULIA, SHWETA;
SACHDEV, VINOD

Publication type:

Case Study

Clinician's guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 221, doi. 10.1111/cge.13153

By:

Schönewolf‐Greulich, B.;
Bisgaard, A‐M.;
Møller, R.S.;
Dunø, M.;
Brøndum‐Nielsen, K.;
Kaur, S.;
Van Bergen, N.J.;
Lunke, S.;
Eggers, S.;
Jespersgaard, C.;
Christodoulou, J.;
Tümer, Z.

Publication type:

Article

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 231, doi. 10.1111/cge.13365

By:

Larizza, L.;
Finelli, P.

Publication type:

Article

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Published in:

2017

By:

Boyle, M.I.;
Jespersgaard, C.;
Nazaryan, L.;
Bisgaard, A. ‐ M.;
Tümer, Z.

Publication type:

Case Study