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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1965 1
1969 1
1971 1
1972 2
1981 1
1982 1
1983 2
1986 1
1987 1
1989 1
1990 1
1991 1
1992 1
1993 1
1995 2
1996 2
1997 3
1998 5
1999 1
2000 2
2001 2
2002 4
2003 1
2004 2
2005 3
2006 2
2007 3
2008 2
2009 2
2010 3
2011 4
2012 6
2013 7
2014 10
2015 2
2016 6
2017 9
2018 1
2019 5
2020 6
2021 8
2022 3
2023 6
2024 8

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122 results

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Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. ...The recommendations as presente …
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-def …
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Brimble E, Reyes KG, Kuhathaas K, Devinsky O, Ruzhnikov MRZ, Ortiz-Gonzalez XR, Scheffer I, Bahi-Buisson N, Olson H; FOXG1 Research Foundation. Brimble E, et al. Orphanet J Rare Dis. 2023 Jun 12;18(1):149. doi: 10.1186/s13023-023-02745-y. Orphanet J Rare Dis. 2023. PMID: 37308910 Free PMC article.

RESULTS: We studied 122 registry participants with FOXG1 syndrome, aged < 12 months to 24 years. Caregivers described delayed or absent developmental milestone attainment, seizures (61%), and movement disorders (58%). ...We also observed that truncations preservi

…

RESULTS: We studied 122 registry participants with FOXG1 syndrome, aged < 12 months to 24 years. Caregivers described delayed or absent

…
Corticosteroids for the prevention and treatment of bronchopulmonary dysplasia: an overview of systematic reviews.
van de Loo M, van Kaam A, Offringa M, Doyle LW, Cooper C, Onland W. van de Loo M, et al. Cochrane Database Syst Rev. 2024 Apr 10;4(4):CD013271. doi: 10.1002/14651858.CD013271.pub2. Cochrane Database Syst Rev. 2024. PMID: 38597338 Review.
However, these benefits are likely accompanied by harmful effects like cerebral palsy or neurosensory disability (dexamethasone) or gastrointestinal perforation (both dexamethasone and hydrocortisone). Late initiated systemic dexamethasone ( seven days after birth) may hav …
However, these benefits are likely accompanied by harmful effects like cerebral palsy or neurosensory disability (dexamethasone) or g …
Genetic analysis and prenatal diagnosis of 76 Chinese families with X-linked adrenoleukodystrophy.
Liu S, Li L, Wu H, Pei P, Zheng X, Pan H, Bao X, Qi Y, Ma Y. Liu S, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1844. doi: 10.1002/mgg3.1844. Epub 2021 Nov 26. Mol Genet Genomic Med. 2022. PMID: 34826210 Free PMC article.
Descriptive statistics were used to summarise the gene variants and prenatal diagnosis characteristics and outcomes. RESULTS: This study allowed the identification of 61 variants occurring in 68 families, including 58 single nucleotide variants or small deletion/insertion …
Descriptive statistics were used to summarise the gene variants and prenatal diagnosis characteristics and outcomes. RESULTS: This study all …
Mental, Neurological, and Somatic Comorbidities and Their Treatment in Persons With Intellectual Disability.
Weih M, Köhler S, Schöll N, Schulz M, Hering R. Weih M, et al. Dtsch Arztebl Int. 2022 Jun 17;119(24):418-414. doi: 10.3238/arztebl.m2022.0193. Dtsch Arztebl Int. 2022. PMID: 35506265 Free PMC article.
BACKGROUND: Persons with intellectual disability (ID) often suffer from significant comorbidities. ...CONCLUSION: A diagnosis of ID frequently appears in outpatient billing data. Future analyses should be devoted to the specific care of people with intelle …
BACKGROUND: Persons with intellectual disability (ID) often suffer from significant comorbidities. ...CONCLUSION: A diagnosis …
Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Sousa SB, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169058 Review.
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin rem …
Nicolaides-Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non- …
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.
Wang Y, Peng W, Guo HY, Li H, Tian J, Shi YJ, Yang X, Yang Y, Zhang WQ, Liu X, Liu GN, Deng T, Sun YM, Xing WL, Cheng J, Feng ZC. Wang Y, et al. Sci Rep. 2016 Jun 29;6:29088. doi: 10.1038/srep29088. Sci Rep. 2016. PMID: 27353517 Free PMC article.
Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related disorders. A cohort of 214 neonates with hypotonia was recruited from 2012 to 2014 in China for this study. ...
Two panels for diagnosing neonatal hypotonia were developed, which enriches 35 genes corresponding to 61 neonatal hypotonia-related d …
Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review.
Sun H, Wan N. Sun H, et al. Public Health Genomics. 2021;24(5-6):218-228. doi: 10.1159/000515547. Epub 2021 Jul 15. Public Health Genomics. 2021. PMID: 34265769 Free article. Review.
This study aims to analyze clinical phenotypes and identify pathogenic CNVs in a patient with short stature, intellectual disability, craniofacial deformities, and anal imperforation. ...Genotype-phenotype analysis demonstrated that patients with 8q24.3 duplication …
This study aims to analyze clinical phenotypes and identify pathogenic CNVs in a patient with short stature, intellectual disabili …
Mental health impact on primary and secondary Prader-Willi syndrome caregivers.
González Ruiz Y, Gerk A, Stegmann J. González Ruiz Y, et al. Child Care Health Dev. 2024 Jan;50(1):e13162. doi: 10.1111/cch.13162. Epub 2023 Aug 23. Child Care Health Dev. 2024. PMID: 37614065
Concerning depression, 40% of primary caregivers related possible or probable cases of depression compared with non-primary caregivers 13% (p = 0.04). Regarding caregiver burden evaluated using the Zarit scale, 61% of the main caregivers presented high levels of overload, …
Concerning depression, 40% of primary caregivers related possible or probable cases of depression compared with non-primary caregivers 13% ( …
Non-pharmacological management of problematic sleeping in children with developmental disabilities.
Spruyt K, Curfs LM. Spruyt K, et al. Dev Med Child Neurol. 2015 Feb;57(2):120-36. doi: 10.1111/dmcn.12623. Epub 2014 Nov 5. Dev Med Child Neurol. 2015. PMID: 25370592 Free article. Review.
METHOD: A literature search was conducted and data on the study descriptives, patient characteristics, study design, study-related factors, criteria applied to operationalize sleep and developmental disability, and sleep 'management' were collected. Each management …
METHOD: A literature search was conducted and data on the study descriptives, patient characteristics, study design, study-related factors, …
122 results