Search Results - "Bisgaard AM"

Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome.

Authors: Bisgaard AM Wong K Højfeldt AK et al.

Source: Frontiers in neurology [Front Neurol] 2026 Jan 29; Vol. 16, pp. 1702703. Date of Electronic Publication: 2026 Jan 29 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Dental Anomalies in a Pediatric Patient with 16p13.11 Recurrent Microdeletion Syndrome: A Case Report.

Alternate Title: 16p13.11 Rekürrent Mikrodelesyon Sendromlu Çocuk Hastada Dental Anomaliler: Olgu Sunumu.

Authors: Aksoy, Hilal Ertuğrul, Fahinur Özdemir, Taha Reşid

Source: Journal of Behcet Uz Children's Hospital. Apr2026, Vol. 16 Issue 1, p77-82. 6p.

Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients.

Authors: Galán-Olleros, María González-Alguacil, Elena Soto-Insuga, Víctor et al.

Source: Journal of Autism & Developmental Disorders. Aug2025, Vol. 55 Issue 8, p2873-2883. 11p.

Subjects: Proteins, Cross-sectional method, Hip joint dislocation, Motor ability, Rett syndrome, Cluster analysis (Statistics), Scientific observation, Scoliosis, Kyphosis, Functional assessment, Kruskal-Wallis Test, Functional status, Foot abnormalities, Retrospective studies, Descriptive statistics, Analysis of covariance, Multivariate analysis, Genes, Orthopedics, Medical records, Acquisition of data, Genetic mutation, Data analysis software, Regression analysis, Spine diseases

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.

Authors: Onesimo, Roberta Santis, Rita De Leoni, Chiara et al.

Source: Italian Journal of Pediatrics. 7/16/2023, Vol. 49 Issue 1, p1-3. 3p.

Clinical delineation and genotype-phenotype correlation of 84 pediatric patients with Cornelia de Lange syndrome: insights from a single-center Chinese study.

Authors: Li Q Chang G Huang Y et al.

Source: European journal of pediatrics [Eur J Pediatr] 2026 May 28; Vol. 185 (6). Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype.

Authors: Qin, Shengfang Wang, Xueyan Chen, Chun et al.

Source: Italian Journal of Pediatrics. 5/24/2025, Vol. 51 Issue 1, p1-12. 12p.

Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models.

Authors: Parodi C Lettieri A Grazioli P et al.

Source: Cell death discovery [Cell Death Discov] 2026 Mar 28; Vol. 12 (1). Date of Electronic Publication: 2026 Mar 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE

Thalidomide-induced limb malformations: an update and reevaluation.

Authors: Collins MD Scott WJ

Source: Archives of toxicology [Arch Toxicol] 2025 May; Vol. 99 (5), pp. 1643-1747. Date of Electronic Publication: 2025 Apr 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417615 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0738 (Electronic) Linking ISSN: 03405761 NLM ISO Abbreviation: Arch Toxicol Subsets: MEDLINE

Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2‐allelic disorders.

Authors: Pehlivan, Davut Huang, Chengjun Harris, Holly K. et al.

Source: Annals of Clinical & Translational Neurology. Feb2025, Vol. 12 Issue 2, p433-447. 15p.

Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).

Authors: Boiu, Sorina Paschalidis, Nikolaos Sentis, George et al.

Source: Pediatric Rheumatology. 1/27/2025, Vol. 23 Issue 1, p1-15. 15p.

Bilateral ulnar longitudinal deficiency with oligodactyly in newborn.

Alternate Title: Deficiência longitudinal congênita da ulna com oligodactilia bilateral em recém-nascido.

Authors: Simão, Sofia Cruzes Moysés da Silva, Júlia Avelans Pires Miranda, Ariel Ortega et al.

Source: Revista Paulista de Pediatria. 2025, Vol. 43, p1-5. 5p.

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Authors: Downs, Jenny Pichard, Dominique C. Kaufmann, Walter E. et al.

Source: Trials. 12/21/2024, Vol. 25 Issue 1, p1-20. 20p.

Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.

Authors: Tehrani Fateh, Sahand Mohammad Zadeh, Nadia Salehpour, Shadab et al.

Source: BMC Medical Genomics. 1/12/2024, Vol. 17 Issue 1, p1-9. 9p.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.

Authors: Kotani, Tomomi Tsuda, Hiroyuki Ito, Yumiko et al.

Source: Journal of Medical Case Reports. 12/27/2022, Vol. 16 Issue 1, p1-6. 6p.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Authors: Kolkiran A Ataseven Kulalı M Daşar T et al.

Source: European journal of pediatrics [Eur J Pediatr] 2026 Mar 08; Vol. 185 (3). Date of Electronic Publication: 2026 Mar 08.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

High-throughput behavioural phenotyping of 25 C. elegans disease models including patient-specific mutations.

Authors: O'Brien, Thomas J. Navarro, Eneko P. Barroso, Consuelo et al.

Source: BMC Biology. 9/26/2025, Vol. 23 Issue 1, p1-20. 20p.

Exploring the uncharted role of cell senescence in rare diseases.

Authors: Selvaggio, Piera Taci, Esi Barassi, Alessandra et al.

Source: Orphanet Journal of Rare Diseases. 9/1/2025, Vol. 20 Issue 1, p1-17. 17p.

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey.

Authors: Kaufmann, Walter E. Percy, Alan K. Neul, Jeffrey L. et al.

Source: Orphanet Journal of Rare Diseases. 8/13/2024, Vol. 19 Issue 1, p1-14. 14p.

Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome.

Authors: Ng, Rowena O'Connor, Julia Summa, Deirdre et al.

Source: Orphanet Journal of Rare Diseases. 3/10/2024, Vol. 19 Issue 1, p1-9. 9p.

The Rett Syndrome Gross Motor Scale – Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome.

Authors: Borst, Hanneke Weeda, Josianne Downs, Jenny et al.

Source: Developmental Neurorehabilitation. Feb 2022, Vol. 25 Issue 2, p133-139. 7p. 4 Charts.