Works matching DE "WILLIAMS syndrome"

Results: 966

Analysis of clinical audiological characteristics in children with Williams syndrome in China.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03650-2

By:

Li, Fangfang;
Xu, Bin;
Shen, Jiyang;
Chen, Weijun;
Guo, Junxia;
Yao, Dan;
Shao, Jie;
Ji, Chai

Publication type:

Article

Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 6, p. 2092, doi. 10.1007/s10803-023-06205-1

By:

Hirai, Masahiro;
Ikeda, Ayaka;
Kato, Takeo;
Ikeda, Takahiro;
Asada, Kosuke;
Hakuno, Yoko;
Matsushima, Kanae;
Awaya, Tomonari;
Okazaki, Shin;
Kato, Toshihiro;
Heike, Toshio;
Hagiwara, Masatoshi;
Yamagata, Takanori;
Tomiwa, Kiyotaka;
Kimura, Ryo

Publication type:

Article

Fanconi's syndrome and distal (Type 1) renal tubular acidosis in a patient with primary Sjögren's syndrome with monoclonal gammopathy of undetermined significance.

Published in:

Clinical Nephrology, 2006, v. 65, n. 6, p. 427, doi. 10.5414/CNP65427

By:

Kobayashi, T.;
Muto, S.;
Nemoto, J.;
Miyata, Y.;
Ishiharajima, S.;
Hironaka, M.;
Asano, Y.;
Kusano, E.

Publication type:

Article

Perioperative care of the patient with Williams syndrome.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 3, p. 243, doi. 10.1111/j.1460-9592.2004.01567.x

By:

Medley, John;
Russo, Pierantonio;
Tobias, Joseph D.

Publication type:

Article

Incidence of diverticular disease and complicated diverticular disease in young patients with Williams syndrome.

Published in:

2010

By:

Stagi, Stefano;
Lapi, Elisabetta;
Chiarelli, Francesco;
de Martino, Maurizio

Publication type:

commentary

A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 2, p. 182, doi. 10.5152/TurkArchPediatr.2023.22212

By:

Bozlak, Serdar;
Alkaya, Dilek Uludağ;
Kasap, Büşra;
Ülker, Aylin Yüksel;
Yıldız, Ceren Ayça;
Altındağ, Veysel;
Ülkersoy, İpek;
Sunamak, Evrim Çifçi;
Dedeoğlu, Reyhan;
Tüysüz, Beyhan

Publication type:

Article

Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills.

Published in:

Turkish Journal of Medical Sciences, 2023, v. 53, n. 5, p. 1348, doi. 10.55730/1300-0144.5701

By:

GÜVEN BAYSAL, Şenay;
ARSLAN, Feyzullah Necati;
BÜYÜKAVCI, Mehmet Akif;
YAĞIN, Fatma Hilal;
EKİCİ, Cemal;
ESENER, Zeynep;
GÜMÜŞ DOĞAN, Derya

Publication type:

Article

A - 43 Neuropsychological Profile of MED13L Syndrome: a Rare Genetic Disorder.

Published in:

2024

By:

Rowcliffe, Stacey A;
Culotta, Vincent P;
Griffith, Kirk

Publication type:

Case Study

How Flexible is the Use of Egocentric Versus Allocentric Frame of Reference in the Williams Syndrome Population?

Published in:

Archives of Clinical Neuropsychology, 2018, v. 33, n. 5, p. 619, doi. 10.1093/arclin/acx097

By:

Heiz, J;
Majerus, S;
Barisnikov, K

Publication type:

Article

Desarrollo motriz y de lenguaje en el niño con síndrome de Williams a la edad de tres años.

Published in:

Revista Pensamiento Americano, 2018, v. 11, n. 20, p. 156, doi. 10.21803/pensam.v11i20.20

By:

Vega Fajardo, Jeniffer Ximena;
Barbosa Arrieta, Sandy Yulieth;
Barrios Murillo, Leidy Lorena;
Ojito Camacho, Carollyn Dayana;
Padilla Noriega, Sindy Paola

Publication type:

Article

Williams-Beuren Syndrome: Manifestation with Attention Deficit Hyper Activity Disorder and Voiding Dysfunction with Kidney Anomalies; Good Response to Ritalin.

Published in:

Journal of Pediatric Nephrology, 2015, v. 3, n. 3, p. 113

By:

Bidaki, Reza;
Sadeghye, Tahere

Publication type:

Article

Clinical phenotypes study of 231 children with Williams syndrome in China: A single‐center retrospective study.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 12, p. 1, doi. 10.1002/mgg3.2069

By:

Li, Fang‐fang;
Chen, Wei‐jun;
Yao, Dan;
Xu, Lin;
Shen, Ji‐yang;
Zeng, Yan;
Shi, Zhuo;
Ye, Xiao‐wei;
Kang, Dao‐huan;
Xu, Bin;
Shao, Jie;
Ji, Chai

Publication type:

Article

Objective differential diagnosis of Noonan and Williams–Beuren syndromes in diverse populations using quantitative facial phenotyping.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1636

By:

Porras, Antonio R.;
Summar, Marshal;
Linguraru, Marius George

Publication type:

Article

Cognition in adults with Williams syndrome—A 20‐year follow‐up study.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.695

By:

Sauna‐aho, Oili;
Bjelogrlic‐Laakso, Nina;
Sirén, Auli;
Kangasmäki, Virpi;
Arvio, Maria

Publication type:

Article

Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.517

By:

Xia, Yu;
Huang, Shufang;
Wu, Yueheng;
Yang, Yongchao;
Chen, Shaoxian;
Li, Ping;
Zhuang, Jian

Publication type:

Article

Exome sequencing of 85 Williams–Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 749, doi. 10.1002/mgg3.429

By:

Kopp, Nathan D.;
Parrish, Phoebe C. R.;
Lugo, Michael;
Dougherty, Joseph D.;
Kozel, Beth A.

Publication type:

Article

Williams–Beuren syndrome shapes the gut microbiota metaproteome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-46052-9

By:

Marzano, Valeria;
Levi Mortera, Stefano;
Vernocchi, Pamela;
Del Chierico, Federica;
Marangelo, Chiara;
Guarrasi, Valerio;
Gardini, Simone;
Dentici, Maria Lisa;
Capolino, Rossella;
Digilio, Maria Cristina;
Di Donato, Maddalena;
Spasari, Iolanda;
Abreu, Maria Teresa;
Dallapiccola, Bruno;
Putignani, Lorenza

Publication type:

Article

No transfer of arousal from other's eyes in Williams syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45521-5

By:

Kleberg, Johan Lundin;
Hallman, Astrid E. Z.;
Galazka, Martyna A.;
Riby, Deborah M.;
Bölte, Sven;
Willfors, Charlotte;
Fawcett, Christine;
Nordgren, Ann

Publication type:

Article

No transfer of arousal from other's eyes in Williams syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45521-5

By:

Kleberg, Johan Lundin;
Hallman, Astrid E. Z.;
Galazka, Martyna A.;
Riby, Deborah M.;
Bölte, Sven;
Willfors, Charlotte;
Fawcett, Christine;
Nordgren, Ann

Publication type:

Article

Analysis of gut microbiota in patients with Williams–Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36704-1

By:

Del Chierico, Federica;
Marzano, Valeria;
Scanu, Matteo;
Reddel, Sofia;
Dentici, Maria Lisa;
Capolino, Rossella;
Di Donato, Maddalena;
Spasari, Iolanda;
Fiscarelli, Ersilia Vita;
Digilio, Maria Cristina;
Abreu, Maria Teresa;
Dallapiccola, Bruno;
Putignani, Lorenza

Publication type:

Article

EP10.29: Prenatal diagnosis of Williams syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 242, doi. 10.1002/uog.19958

By:

Maeda, K.;
Kaji, T.;
Nakaoku, D.;
Yamasaki, M.;
Kondo, A.;
Morine, M.;
Hinokio, K.

Publication type:

Article

P12.05: Case report: Williams-Beuren syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 249, doi. 10.1002/uog.14216

By:

Lillo Paredes, A.;
Fernandez, S.;
Arigita, M.

Publication type:

Article

OP28.09: Prenatal detection of Williams-Beuren syndrome using SNP array: report of two cases.

Published in:

Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 141, doi. 10.1002/uog.11667

By:

Hynek, M.;
Smetanova, D.;
Trkova, M.;
Becvarova, V.;
Hlavova, E.;
Stejskal, D.

Publication type:

Article

Age at Onset of Declarative Gestures and 24-Month Expressive Vocabulary Predict Later Language and Intellectual Abilities in Young Children With Williams Syndrome.

Published in:

Frontiers in Psychology, 2019, v. 10, p. 1, doi. 10.3389/fpsyg.2019.02648

By:

Becerra, Angela M.;
Mervis, Carolyn B.

Publication type:

Article

Physiological reactivity to faces via live and video-mediated communication in typical and atypical development.

Published in:

Journal of Clinical & Experimental Neuropsychology, 2012, v. 34, n. 4, p. 385, doi. 10.1080/13803395.2011.645019

By:

Riby, DeborahM.;
Whittle, Lisa;
Doherty-Sneddon, Gwyneth

Publication type:

Article

Attention-deficit/hyperactivity disorder and Williams syndrome: Shared behavioral and neuropsychological profiles.

Published in:

Journal of Clinical & Experimental Neuropsychology, 2011, v. 33, n. 1, p. 147, doi. 10.1080/13803395.2010.495057

By:

Rhodes, SinéadM.;
Riby, DeborahM.;
Matthews, Keith;
Coghill, DavidR.

Publication type:

Article

Increased Prevalences of Left-handedness and Left-eye Sighting Dominance in Individuals with Williams-Beuren Syndrome.

Published in:

Journal of Clinical & Experimental Neuropsychology, 2005, v. 27, n. 8, p. 967, doi. 10.1080/13803390490919119

By:

Van Strien, J. W.;
Lagers-Van Haselen, G. C.;
Van Hagen, J. M.;
De Coo, I. F. M.;
Frens, M. A.;
Van Der Geest, J. N.

Publication type:

Article

Williams Syndrome: Daily Challenges and Positive Impact on the Family.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2011, v. 24, n. 2, p. 181, doi. 10.1111/j.1468-3148.2010.00575.x

By:

Scallan, Susan;
Senior, Joyce;
Reilly, Colin

Publication type:

Article

Cognitive, Linguistic and Adaptive Functioning in Williams Syndrome: Trajectories from Early to Middle Adulthood.

Published in:

Journal of Applied Research in Intellectual Disabilities, 2010, v. 23, n. 4, p. 322, doi. 10.1111/j.1468-3148.2009.00536.x

By:

Howlin, Patricia;
Elison, Sarah;
Udwin, Orlee;
Stinton, Christopher

Publication type:

Article

Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.

Published in:

Cytogenetics & Cell Genetics, 2001, v. 95, n. 1/2, p. 20, doi. 10.1159/000057012

By:

Doll, A.;
Grzeschik, K.-H.

Publication type:

Article

Divergent human and mouse orthologs of a novel gene (WBSCR15/ Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 90, n. 3/4, p. 285, doi. 10.1159/000056790

By:

Doyle, J.L.;
DeSilva, U.;
Miller, W.;
Green, E.D.

Publication type:

Article

TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.

Published in:

Cytogenetics & Cell Genetics, 1999, v. 86, n. 3/4, p. 277, doi. 10.1159/000015319

By:

Pérez-Jurado, L. A.;
Wang, Y.-K.;
Francke, U.;
Cruces, J.

Publication type:

Article

Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.

Published in:

Cytogenetics & Cell Genetics, 1999, v. 86, n. 3/4, p. 296, doi. 10.1159/000015322

By:

Franke, Y.;
Peoples, R. J.;
Francke, U.

Publication type:

Article

Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 82, n. 3/4, p. 238, doi. 10.1159/000015110

By:

Peoples, R. J.;
Cisco, M. J.;
Kaplan, P.;
Francke, U.

Publication type:

Article

Hemizygous deletion of the HPC-1/syntaxin 1A gene (STX1A) in patients with Williams syndrome.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 82, n. 1/2, p. 49, doi. 10.1159/000015063

By:

Nakayama, T.;
Matsuoka, R.;
Kimura, M.;
Hirota, H.;
Mikoshiba, K.;
Shimizu, Y.;
Shimizu, N.;
Akagawa, K.

Publication type:

Article

Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 9, p. 3797, doi. 10.1007/s00431-024-05646-9

By:

Huang, Pingchuan;
Huang, Jinze;
Huang, Yulu;
Yang, Maohong;
Kong, Ran;
Sun, Haomiao;
Han, Jin;
Guo, Huiming;
Wang, Shushui

Publication type:

Article

A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome.

Published in:

Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00721

By:

Gagliardi, Chiara;
Arrigoni, Filippo;
Nordio, Andrea;
De Luca, Alberto;
Peruzzo, Denis;
Decio, Alice;
Leemans, Alexander;
Borgatti, Renato

Publication type:

Article

Abnormalities in Pattern of Lateralization in Relation to Visuospatial Short Term Memory in Children with Williams Syndrome.

Published in:

Child Development Research, 2014, p. 1, doi. 10.1155/2014/491458

By:

Chasouris, Antonios;
Mayer, Peter;
Stuart-Hamilton, Ian;
Graff, Martin;
Workman, Lance

Publication type:

Article

Γλωσσικά και γνωστικά χαρακτηριστικά νηπίων με σύνδρομο Williams-Beuren Η μεταξύ τους σχέση

Published in:

Archives of Hellenic Medicine / Arheia Ellenikes Iatrikes, 2022, v. 39, n. 2, p. 181

By:

Κατσαρού, Δ.;
Ανδρέου, Γ.

Publication type:

Article

Small subitizing range in people with Williams syndrome.

Published in:

Visual Cognition, 2011, v. 19, n. 3, p. 289, doi. 10.1080/13506285.2010.535994

By:

O'Hearn, Kirsten;
Hoffman, JamesE.;
Landau, Barbara

Publication type:

Article

Show me your eyes: Evidence from Williams syndrome.

Published in:

Visual Cognition, 2010, v. 18, n. 6, p. 801, doi. 10.1080/13506281003616214

By:

Riby, DeborahM.

Publication type:

Article

Exploring block construction and mental imagery: Evidence of atypical orientation discrimination in Williams syndrome.

Published in:

Visual Cognition, 2004, v. 11, n. 8, p. 1019, doi. 10.1080/13506280444000058b

By:

Farran, Emily K.;
Jarrold, Christopher

Publication type:

Article

Diversity of Participants in Williams Syndrome Intervention Studies.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 10, p. 3888, doi. 10.1007/s10803-023-06088-2

By:

Shin, Eva;
Ravichandran, Caitlin;
Renzi, Danielle;
Pober, Barbara R.;
McDougle, Christopher J.;
Thom, Robyn P.

Publication type:

Article

Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 8, p. 3176, doi. 10.1007/s10803-022-05740-7

By:

Hirai, Masahiro;
Asada, Kosuke;
Kato, Takeo;
Ikeda, Takahiro;
Hakuno, Yoko;
Ikeda, Ayaka;
Matsushima, Kanae;
Awaya, Tomonari;
Okazaki, Shin;
Kato, Toshihiro;
Funabiki, Yasuko;
Murai, Toshiya;
Heike, Toshio;
Hagiwara, Masatoshi;
Yamagata, Takanori;
Tomiwa, Kiyotaka;
Kimura, Ryo

Publication type:

Article

Friendships in Children with Williams Syndrome: Parent and Child Perspectives.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 2, p. 509, doi. 10.1007/s10803-022-05807-5

By:

Gillooly, Amanda E.;
Riby, Deborah M.;
Durkin, Kevin;
Rhodes, Sinéad M.

Publication type:

Article

Williams syndrome: reduced orienting to other's eyes in a hypersocial phenotype.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 7, p. 2786, doi. 10.1007/s10803-022-05563-6

By:

Kleberg, Johan Lundin;
Riby, Deborah;
Fawcett, Christine;
Björlin Avdic, Hanna;
Frick, Matilda A.;
Brocki, Karin C.;
Högström, Jens;
Serlachius, Eva;
Nordgren, Ann;
Willfors, Charlotte

Publication type:

Article

Correction to: Comparison of the social responsiveness scale-2 among individuals with Autism Spectrum Disorder and Williams Syndrome in Japan.

Published in:

2023

By:

Hirai, Masahiro;
Asada, Kosuke;
Kato, Takeo;
Ikeda, Takahiro;
Hakuno, Yoko;
Ikeda, Ayaka;
Matsushima, Kanae;
Awaya, Tomonari;
Okazaki, Shin;
Kato, Toshihiro;
Funabiki, Yasuko;
Murai, Toshiya;
Heike, Toshio;
Hagiwara, Masatoshi;
Yamagata, Takanori;
Tomiwa, Kiyotaka;
Kimura, Ryo

Publication type:

Correction Notice

A Distance-Delivered Social Skills Program for Young Adults with Williams Syndrome: Evaluating Feasibility and Preliminary Efficacy.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 12, p. 5162, doi. 10.1007/s10803-022-05501-6

By:

Fisher, Marisa H.;
Kammes, Rebecca R.;
Black, Rhonda S.;
Houck, Kristin;
Cwiakala, Katie

Publication type:

Article

Sensory Processing in Williams Syndrome: Individual differences and changes over time.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 7, p. 3129, doi. 10.1007/s10803-021-05197-0

By:

Powell, Bradley;
Van Herwegen, Jo

Publication type:

Article

Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 2, p. 852, doi. 10.1007/s10803-021-04979-w

By:

Huston, John C.;
Thom, Robyn P.;
Ravichandran, Caitlin T.;
Mullett, Jennifer E.;
Moran, Carly;
Waxler, Jessica L.;
Pober, Barbara R.;
McDougle, Christopher J.

Publication type:

Article