Works matching DE "SOTOS' syndrome"

Results: 29

Sotos Syndrome and Nephrocalcinosis a Rare But Possible Association Due to Impact on Contiguous Genes.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2025, v. 17, n. 2, p. 219, doi. 10.4274/jcrpe.galenos.2023.2023-3-11

By:

González-Rodríguez, Juan D.;
Inglés-Torres, Esther Q.;
Cabrera-Sevilla, José E.;
Ibáñez-Micó, Salvador;
Bermejo-Costa, Francisca;
Vera-Carbonell, Ascensión;
Bafalliu-Vidal, Juan A.;
Cortés-Mora, Pedro;
Lorente-Nicolás, Ana;
Donate-Legaz, José María

Publication type:

Article

Anaesthesia recommendations for Sotos syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. 1, doi. 10.19224/ai2022.S356

By:

Caufield, Kim;
Wiseman, Patrick

Publication type:

Article

Anaesthesia recommendations for Sotos syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2022, v. 63, n. 10, p. S356, doi. 10.19224/ai2022.S356
Publication type:: Article

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Published in:

Genes, 2016, v. 7, n. 11, p. 96, doi. 10.3390/genes7110096

By:

Kyungsoo Ha;
Anand, Priya;
Lee, Jennifer A.;
Jones, Julie R.;
Chong Ae Kim;
Bertola, Debora Romeo;
Labonne, Jonathan D. J.;
Layman, Lawrence C.;
Wolfgang Wenzel;
Hyung-Goo Kim

Publication type:

Article

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0282-4

By:

Hai-Yun Dong;
Hui Zeng;
Yi-Qiao Hu;
Li Xie;
Jian Wang;
Xiu-Ying Wang;
Yi-Feng Yang;
Zhi-Ping Tan

Publication type:

Article

A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.

Published in:

Turkish Journal of Pediatrics, 2013, v. 55, n. 2, p. 207

By:

Ütine, Gülen Eda;
Kılıç, Esra;
Boduroğlu, Koray

Publication type:

Article

Neuropsiquiatría en el Síndrome de Sotos: revisión y actualización a propósito de un caso.

Published in:

2014

By:

De la Garza, César Luis Sanz;
Benito Bono, Carlos;
Irimia, Andrea

Publication type:

Case Study

Exploring the approximate number system in Sotos syndrome: insights from a dot comparison task.

Published in:

Journal of Intellectual Disability Research, 2019, v. 63, n. 8, p. 917, doi. 10.1111/jir.12604

By:

Lane, C.;
Van Herwegen, J.;
Freeth, M.

Publication type:

Article

Anesthetic considerations in a child with Sotos syndrome.

Published in:

2017

By:

Joo-Young Chung;
Gahyun Kim;
Ju-Hun Park;
Hyen Kyu Choi;
Byoung Hark Park;
Mi Young Choi;
Jong-Sool Kim

Publication type:

Case Study

The Association between Intelligence and Telomere Length: A Longitudinal Population Based Study.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049356

By:

Kingma, Eva M.;
de Jonge, Peter;
van der Harst, Pim;
Ormel, Johan;
Rosmalen, Judith G. M.

Publication type:

Article

Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome.

Published in:

Pediatric Dermatology, 2016, v. 33, n. 6, p. e351, doi. 10.1111/pde.12969

By:

Bou‐Assi, Elodie;
Bonniaud, Bertille;
Grimaldi, Marianne;
Faivre, Laurence;
Vabres, Pierre

Publication type:

Article

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124

By:

Miyatake, Satoko;
Koshimizu, Eriko;
Fujita, Atsushi;
Fukai, Ryoko;
Imagawa, Eri;
Ohba, Chihiro;
Kuki, Ichiro;
Nukui, Megumi;
Araki, Atsushi;
Makita, Yoshio;
Ogata, Tsutomu;
Nakashima, Mitsuko;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Saitsu, Hirotomo;
Matsumoto, Naomichi

Publication type:

Article

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 2, p. 73, doi. 10.1038/jhg.2012.135

By:

Bae Sohn, Young;
Gon Lee, Cha;
Min Ko, Jung;
Yang, Jung-Ah;
Yun, Jun-No;
Jung, Eun-Jung;
Jin, Hyun-Seok;
Park, Sang-Jin;
Yong Jeong, Seon

Publication type:

Article

Orthodontic Management of Severe Hypodontia and Impacted Maxillary Second Molars in a Patient with Sotos Syndrome.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 1, p. 164, doi. 10.1177/10556656231201834

By:

Oka, Ayaka;
Inubushi, Toshihiro;
Kani, Renshiro;
Yamashiro, Takashi

Publication type:

Article

Two cases of pediatric splenic torsion as a possible late complication of laparoscopic fundoplication.

Published in:

Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15810

By:

Hiraba, Takayuki;
Ogita, Hiroya;
Yokota, Takayuki;
Kondo, Sonoko;
Tanaka, Aya;
Shimono, Ryuichi;
Kusaka, Takashi

Publication type:

Article

COVID‐19 pneumonia in a child with Sotos syndrome.

Published in:

2021

By:

Ito, Tomoshiro;
Kudo, Eriko;
Yamazaki, Takeshi;
Hatakeyama, Kinya;
Sano, Hitomi

Publication type:

Case Study

PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule.

Published in:

Pediatrics International, 2017, v. 59, n. 11, p. 1223, doi. 10.1111/ped.13427

By:

Nyuzuki, Hiromi;
Kogai, Takahiko;
Hishinuma, Akira;
Ogawa, Yohei;
Saitoh, Akihiko;
Nagasaki, Keisuke

Publication type:

Article

Lysine Methyltransferase NSD1 and Cancers: Any Role in Melanoma?

Published in:

Cancers, 2022, v. 14, n. 19, p. 4865, doi. 10.3390/cancers14194865

By:

Krossa, Imène;
Strub, Thomas;
Aplin, Andrew E.;
Ballotti, Robert;
Bertolotto, Corine

Publication type:

Article

Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 3, p. 356, doi. 10.4274/jcrpe.galenos.2021.2020.0273

By:

Kontbay, Tuğba;
Şıklar, Zeynep;
Ceylaner, Serdar;
Berberoğlu, Merih

Publication type:

Article

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 5, p. 610, doi. 10.1038/ejhg.2014.162

By:

Klaassens, Merel;
Morrogh, Deborah;
Rosser, Elisabeth M;
Jaffer, Fatima;
Vreeburg, Maaike;
Bok, Levinus A;
Segboer, Tim;
van Belzen, Martine;
Quinlivan, Ros M;
Kumar, Ajith;
Hurst, Jane A;
Scott, Richard H

Publication type:

Article

Approach to the Patient With Pseudoacromegaly.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. 1767, doi. 10.1210/clinem/dgab789

By:

Marques, Pedro;
Korbonits, Márta

Publication type:

Article

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

Published in:

Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2016, v. 160, n. 1, p. 161, doi. 10.5507/bp.2016.006

By:

Jezela-Stanek, Aleksandra;
Kucharczyk, Marzena;
Falana, Katarzyna;
Jurkiewicz, Dorota;
Mlynek, Marlena;
Wicher, Dorota;
Rydzanicz, Malgorzata;
Kugaudo, Monika;
Cieslikowska, Agata;
Ciara, Elzbieta;
Ploski, Rafal;
Krajewska-Walasek, Malgorzata

Publication type:

Article

Dornase alpha inhalations as a treatment option for recurrent lower respiratory tract infections in a child with Sotos syndrome.

Published in:

Wiener Klinische Wochenschrift, 2014, v. 126, n. 13/14, p. 431, doi. 10.1007/s00508-014-0552-2

By:

Eickhoff, Philipp;
Fazekas, Tamas;
Wank, Hans;
Kastner, Ulrike

Publication type:

Article

A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease.

Published in:

Children, 2023, v. 10, n. 7, p. 1111, doi. 10.3390/children10071111

By:

Lu, Dan-Fang;
Tong, Xiao-Mei;
Liu, Yun-Feng

Publication type:

Article

Cognition and Behaviour in Sotos Syndrome: A Systematic Review.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149189

By:

Lane, Chloe;
Milne, Elizabeth;
Freeth, Megan

Publication type:

Article

Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 4, p. 1475, doi. 10.1007/s10803-018-3842-0

By:

Lane, Chloe;
Freeth, Megan;
Van Herwegen, Jo

Publication type:

Article

Characteristics of Autism Spectrum Disorder in Sotos Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2017, v. 47, n. 1, p. 135, doi. 10.1007/s10803-016-2941-z

By:

Lane, Chloe;
Milne, Elizabeth;
Freeth, Megan

Publication type:

Article

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma.

Published in:

International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3189, doi. 10.3390/ijms19103189

By:

Mencarelli, Annalisa;
Prontera, Paolo;
Mencarelli, Amedea;
Rogaia, Daniela;
Stangoni, Gabriela;
Cecconi, Massimiliano;
Esposito, Susanna

Publication type:

Article

Developmental Delay and Epilepsy Without Gigantism: An Unusual Presentation of Soto's Syndrome Due to A Novel Mutation in the NSD1 Gene.

Published in:

2022

By:

Panda, Prateek Kumar;
Nandani, Radhika;
Mehta, Sonalika;
Sharawat, Indar Kumar

Publication type:

Case Study