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Article ; Online: Delineating the phenotype of RNU4ATAC-related spliceosomopathy.

Tabib, Amanda / Richmond, Christopher M / McGaughran, Julie

American journal of medical genetics. Part A

2023 Volume 191, Issue 4, Page(s) 1094–1100

Abstract: Biallelic pathogenic variants in RNU4ATAC cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry-Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping ... ...

Abstract	Biallelic pathogenic variants in RNU4ATAC cause microcephalic osteodysplastic primordial dwarfism type I (MOPD1), Roifman syndrome (RS) and Lowry-Wood syndrome (LWS). These conditions demonstrate significant phenotypic heterogeneity yet have overlapping features. Although historically described as discrete conditions they appear to represent a phenotypic spectrum with clinical features not always aligning with diagnostic categories. Clinical variability and ambiguity in diagnostic criteria exist among each disorder. Here we report an individual with a novel genotype and phenotype spanning all three disorders, expanding the phenotypic spectrum of RNU4ATAC-related spliceosomeopathies.
MeSH term(s)	Humans ; Female ; Mutation ; Fetal Growth Retardation/genetics ; Growth Disorders/genetics ; Dwarfism/genetics ; Microcephaly/genetics ; Phenotype ; Osteochondrodysplasias/genetics
Language	English
Publishing date	2023-01-09
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63110
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Article ; Online: TBX20

Chang, Yuchen / Wacker, Julie / Ingles, Jodie / Macciocca, Ivan / King, Ingrid / Semsarian, Christopher / McGaughran, Julie / Weintraub, Robert G / Bagnall, Richard D

Journal of medical genetics

2024 Volume 61, Issue 2, Page(s) 171–175

Abstract: ... ...

Abstract	TBX20
MeSH term(s)	Adult ; Child ; Humans ; Mutation ; Cardiomyopathies/genetics ; Heart Defects, Congenital/genetics ; Heart ; Heart Failure/genetics ; T-Box Domain Proteins/genetics
Chemical Substances	TBX20 protein, human ; T-Box Domain Proteins
Language	English
Publishing date	2024-01-19
Publishing country	England
Document type	Journal Article
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2023-109455
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Article ; Online: Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.

Rodgers, Jonathan / Richmond, Christopher M / McGaughran, Julie

American journal of medical genetics. Part A

2022 Volume 188, Issue 11, Page(s) 3324–3330

Abstract: Pathogenic variants in CCDC22 were initially described in 2012 in a large Australian family with intellectual disability and were subsequently noted to cause a phenotype consistent with the previously described Ritscher-Schinzel syndrome (RSS). The ... ...

Abstract	Pathogenic variants in CCDC22 were initially described in 2012 in a large Australian family with intellectual disability and were subsequently noted to cause a phenotype consistent with the previously described Ritscher-Schinzel syndrome (RSS). The phenotypes of the original family were not described in detail and remains limited phenotypic data reported in medical literature. We detail the phenotypes of the original family, including newly diagnosed family members. With these eight phenotypic descriptions, more than triple the number of individuals for whom detailed clinical information is available. In addition to typical facies, common phenotypic features included intellectual disability, congenital heart disease and posterior fossa malformations, postnatal short stature, ectodermal abnormalities, and digital anomalies as previously described. Spinal curvature and genital anomalies were seen in most patients, while gastrointestinal features and disturbed sleep were also recurrently seen. We propose a possible mechanism linking the familial variant to a diagnosis of sarcoidosis in one individual. Given the clinical and genetic heterogeneity of RSS, we suggest a dyadic naming convention.
MeSH term(s)	Abnormalities, Multiple ; Australia ; Craniofacial Abnormalities ; Dandy-Walker Syndrome/genetics ; Heart Septal Defects, Atrial ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Phenotype ; Proteins/genetics
Chemical Substances	CCDC22 protein, human ; Proteins
Language	English
Publishing date	2022-09-08
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62963
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Article ; Online: A novel ARX loss of function variant in female monozygotic twins is associated with chorea.

Rodgers, Jonathan / Calvert, Sophie / Shoubridge, Cheryl / McGaughran, Julie

European journal of medical genetics

2021 Volume 64, Issue 11, Page(s) 104315

Abstract: Pathogenic variants in ARX lead to a variety of phenotypes with intellectual disability being a uniform feature. Other features can include severe epilepsy, spasticity, movement disorders, agenesis of the corpus callosum, lissencephaly, hydranencephaly ... ...

Abstract	Pathogenic variants in ARX lead to a variety of phenotypes with intellectual disability being a uniform feature. Other features can include severe epilepsy, spasticity, movement disorders, agenesis of the corpus callosum, lissencephaly, hydranencephaly and ambiguous genitalia in males. We present the first report of monozygotic female twins with a de novo ARX pathogenic variant (c.1406_1415del; p. Ala469Aspfs*20), predicted to result in a truncated ARX protein missing the important regulatory Aristaless domain. The twins presented with profound developmental delay and seizures, consistent with the known genotype-phenotype correlation. Twin 2's features were significantly more severe. She also developed chorea; the first time this movement disorder has been seen in an ARX variant other than an expansion of the first polyalanine tract. Differential X-chromosome inactivation was the most likely explanation for the differing severities but could not be conclusively proven.
MeSH term(s)	Chorea/genetics ; Chorea/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Homeodomain Proteins/genetics ; Humans ; Infant ; Loss of Function Mutation ; Phenotype ; Transcription Factors/genetics ; Twins, Monozygotic ; X Chromosome Inactivation
Chemical Substances	ARX protein, human ; Homeodomain Proteins ; Transcription Factors
Language	English
Publishing date	2021-08-19
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2021.104315
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Article ; Online: Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.

Dai, Pei / Honda, Andrew / Ewans, Lisa / McGaughran, Julie / Burnett, Leslie / Law, Matthew / Phan, Tri Giang

Genetics in medicine : official journal of the American College of Medical Genetics

2022 Volume 24, Issue 8, Page(s) 1618–1629

Abstract: Purpose: The study aimed to determine the diagnostic yield, optimal timing, and methodology of next generation sequencing data reanalysis in suspected Mendelian disorders.: Methods: We conducted a systematic review and meta-analysis of studies that ... ...

Abstract	Purpose: The study aimed to determine the diagnostic yield, optimal timing, and methodology of next generation sequencing data reanalysis in suspected Mendelian disorders. Methods: We conducted a systematic review and meta-analysis of studies that conducted data reanalysis in patients with suspected Mendelian disorders. Random effects model was used to pool the estimated outcome with subgroup analysis stratified by timing, sequencing methodology, sample size, segregation, use of research validation, and artificial intelligence (AI) variant curation tools. Results: A search of PubMed, Embase, Scopus, and Web of Science between 2007 and 2021 yielded 9327 articles, of which 29 were selected. Significant heterogeneity was noted between studies. Reanalysis had an overall diagnostic yield of 0.10 (95% CI = 0.06-0.13). Literature updates accounted for most new diagnoses. Diagnostic yield was higher after 24 months, although this was not statistically significant. Increased diagnoses were obtained with research validation and data sharing. AI-based tools did not adversely affect reanalysis diagnostic rate. Conclusion: Next generation sequencing data reanalysis can improve diagnostic yield. Owing to the heterogeneity of the studies, the optimal time to reanalysis and the impact of AI-based tools could not be determined with confidence. We propose standardized guidelines for future studies to reduce heterogeneity and improve the quality of the conclusions.
MeSH term(s)	Artificial Intelligence ; High-Throughput Nucleotide Sequencing ; Humans ; Whole Exome Sequencing/methods
Language	English
Publishing date	2022-05-14
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Review ; Systematic Review ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2022.04.021
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Article: Evolutionary Responses to Warming

McGaughran, Angela / Laver, Rebecca / Fraser, Ceridwen

Trends in ecology & evolution. 2021 July, v. 36, no. 7

2021

Abstract: Climate change is predicted to dramatically alter biological diversity and distributions, driving extirpations, extinctions, and extensive range shifts across the globe. Warming can also, however, lead to phenotypic or behavioural plasticity, as species ... ...

Abstract	Climate change is predicted to dramatically alter biological diversity and distributions, driving extirpations, extinctions, and extensive range shifts across the globe. Warming can also, however, lead to phenotypic or behavioural plasticity, as species adapt to new conditions. Recent genomic research indicates that some species are capable of rapid evolution as selection favours adaptive responses to environmental change and altered or novel niche spaces. New advances are providing mechanistic insights into how temperature might accelerate evolution in the Anthropocene. These discoveries highlight intriguing new research directions – such as using geothermal and polar systems combined with powerful genomic tools – that will help us to understand the processes underpinning adaptive evolution and better project how ecosystems will change in a warming world.
Keywords	Anthropocene epoch ; biodiversity ; climate change ; evolutionary adaptation ; genomics ; phenotype ; temperature
Language	English
Dates of publication	2021-07
Size	p. 591-600.
Publishing place	Elsevier Ltd
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	284965-3
ISSN	1872-8383 ; 0169-5347
ISSN (online)	1872-8383
ISSN	0169-5347
DOI	10.1016/j.tree.2021.02.014
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: "This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.

Dalach, Philippa / Savarirayan, Ravi / Baynam, Gareth / McGaughran, Julie / Kowal, Emma / Massey, Libby / Jenkins, Misty / Paradies, Yin / Kelaher, Margaret

International journal for equity in health

2021 Volume 20, Issue 1, Page(s) 103

Abstract: Background: Aboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. As ... ...

Abstract	Background: Aboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. As the field continues to expand in clinical utility and implementation, it is critical that Aboriginal and Torres Strait Islander people are able to participate and benefit equally to avoid further widening of the existing health gap. This is the first study to explore barriers to accessing clinical genetics services among Aboriginal and Torres Strait Islander people, which has been acknowledged as a key strategic priority in Australian genomic health policy. Methods: A participatory design process engaged a majority-Aboriginal Project Reference Group and Aboriginal End-User Group. 63 semi-structured interviews were conducted with Aboriginal and/or Torres Strait Islander people who had accessed the government-funded clinical genetics service in Western Australia, Queensland or the Northern Territory between 2014 and 2018. The sample included patients, parents and carers. Participants were asked to recount their 'patient journey', from referral through to post-appointment and reflect on their perceptions of genetics and its implications for the health of themselves and their families. Analysis tracked chronological service engagement, followed by an inductive thematic approach. Results: Barriers to access and engagement were present at each stage of the patient journey. These included challenges in obtaining a referral, long waiting periods, limited genetic literacy, absence of Aboriginal support services, communication challenges and lack of adequate psychosocial support and follow-up after attendance. Participants' overall experiences of attending a genetic health service were varied, with positive perceptions tied closely to a diagnosis being achieved. The experience of (and expectation for) recognition of cultural identity and provision of culturally safe care was low among participants. Unaddressed concerns continued to cause significant distress in some people years after their appointment took place. Conclusions: There is significant scope for improving the care provided to Aboriginal and Torres Strait Islander people at clinical genetics services. Immediate attention to minimising logistical barriers, developing relationships with Aboriginal Community Controlled Health Services and providing practical and specific cultural safety training for practitioners is required at the service-level. Our findings strongly support the development of guidelines or policies recognising the collective cultural needs of Aboriginal and Torres Strait Islander people in relation to genomic health care.
MeSH term(s)	Cultural Competency ; Culturally Competent Care ; Female ; Genetic Testing ; Health Services Accessibility ; Health Services, Indigenous ; Healthcare Disparities ; Humans ; Interviews as Topic ; Male ; Native Hawaiian or Other Pacific Islander/psychology ; Northern Territory ; Qualitative Research ; Queensland ; Western Australia
Language	English
Publishing date	2021-04-17
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2092056-8
ISSN	1475-9276 ; 1475-9276
ISSN (online)	1475-9276
ISSN	1475-9276
DOI	10.1186/s12939-021-01443-0
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Article ; Online: A second case of contractures, webbed neck, micrognathia, hypoplastic nipples, and distinctive facial features: confirmation of the Dinno syndrome.

Wall, Nerilee / McGaughran, Julie

American journal of medical genetics. Part A

2012 Volume 158A, Issue 4, Page(s) 836–838

Abstract: We report on a child with micrognathia, a short, webbed neck, joint contractures, hypoplastic nipples, and a number of other anomalies. There are striking similarities to a patient reported by [Dinno and Weisskopf (1976); Synd Ident, 4:10-12], and we ... ...

Abstract	We report on a child with micrognathia, a short, webbed neck, joint contractures, hypoplastic nipples, and a number of other anomalies. There are striking similarities to a patient reported by [Dinno and Weisskopf (1976); Synd Ident, 4:10-12], and we postulate that this child represents the second patient with this condition.
MeSH term(s)	Abnormalities, Multiple ; Child ; Contracture/genetics ; Facies ; Female ; Hearing Loss/genetics ; Humans ; Hypothyroidism/drug therapy ; Hypothyroidism/genetics ; Karyotype ; Micrognathism/genetics ; Neck/abnormalities ; Nipples/abnormalities
Language	English
Publishing date	2012-03-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.35224
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Article ; Online: “This is my boy’s health! Talk straight to me!” perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services

Philippa Dalach / Ravi Savarirayan / Gareth Baynam / Julie McGaughran / Emma Kowal / Libby Massey / Misty Jenkins / Yin Paradies / Margaret Kelaher

International Journal for Equity in Health, Vol 20, Iss 1, Pp 1-

2021 Volume 13

Abstract: Abstract Background Aboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. ...

Abstract	Abstract Background Aboriginal and Torres Strait Islander people do not enjoy equal access to specialist health services that adequately meet their needs. Clinical genetics services are at the vanguard of realising the health benefits of genomic medicine. As the field continues to expand in clinical utility and implementation, it is critical that Aboriginal and Torres Strait Islander people are able to participate and benefit equally to avoid further widening of the existing health gap. This is the first study to explore barriers to accessing clinical genetics services among Aboriginal and Torres Strait Islander people, which has been acknowledged as a key strategic priority in Australian genomic health policy. Methods A participatory design process engaged a majority-Aboriginal Project Reference Group and Aboriginal End-User Group. 63 semi-structured interviews were conducted with Aboriginal and/or Torres Strait Islander people who had accessed the government-funded clinical genetics service in Western Australia, Queensland or the Northern Territory between 2014 and 2018. The sample included patients, parents and carers. Participants were asked to recount their ‘patient journey’, from referral through to post-appointment and reflect on their perceptions of genetics and its implications for the health of themselves and their families. Analysis tracked chronological service engagement, followed by an inductive thematic approach. Results Barriers to access and engagement were present at each stage of the patient journey. These included challenges in obtaining a referral, long waiting periods, limited genetic literacy, absence of Aboriginal support services, communication challenges and lack of adequate psychosocial support and follow-up after attendance. Participants’ overall experiences of attending a genetic health service were varied, with positive perceptions tied closely to a diagnosis being achieved. The experience of (and expectation for) recognition of cultural identity and provision of culturally safe ...
Keywords	Indigenous Australians ; Aboriginal and Torres Strait islanders ; Genetic health services ; Access to health care ; Cultural safety ; Public aspects of medicine ; RA1-1270
Subject code	360
Language	English
Publishing date	2021-04-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.

Vermeer, Mathilde C S C / Al-Shinnag, Mohammad / Silljé, Herman H W / Gaytan, Antonio Esquivel / Murrell, Dedee F / McGaughran, Julie / Melbourne, Wei / Cowan, Timothy / van den Akker, Peter C / van Spaendonck-Zwarts, Karin Y / van der Meer, Peter / Bolling, Maria C

The British journal of dermatology

2022 Volume 187, Issue 6, Page(s) 1045–1048

Abstract: This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a ... ...

Abstract	This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.
MeSH term(s)	Humans ; Cardiomyopathy, Dilated/genetics ; Codon, Initiator ; Epidermolysis Bullosa Simplex/genetics ; Intermediate Filaments ; Mutation/genetics ; Phenotype ; Repressor Proteins/genetics
Chemical Substances	Codon, Initiator ; KLHL24 protein, human ; Repressor Proteins
Language	English
Publishing date	2022-09-09
Publishing country	England
Document type	Letter
ZDB-ID	80076-4
ISSN	1365-2133 ; 0007-0963
ISSN (online)	1365-2133
ISSN	0007-0963
DOI	10.1111/bjd.21832
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