LIVIVO - Search results -

Search results

Result 1 - 10 of total 97

Search options

Article ; Online: First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?

Taylor, James / Balasubramanian, Meena

BMJ case reports

2022 Volume 15, Issue 3

MeSH term(s)	Base Sequence ; High-Throughput Nucleotide Sequencing ; Humans ; Phenotype
Language	English
Publishing date	2022-03-07
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2021-247238
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

Woods, Emily / Holmes, Nicola / Albaba, Shadi / Evans, Iwan R / Balasubramanian, Meena

Clinical genetics

2024 Volume 105, Issue 5, Page(s) 470–487

Abstract: ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports ... ...

Abstract	ASXL3-related disorder, sometimes referred to as Bainbridge-Ropers syndrome, was first identified as a distinct neurodevelopmental disorder by Bainbridge et al. in 2013. Since then, there have been a number of case series and single case reports published worldwide. A comprehensive review of the literature was carried out. Abstracts were screened, relevant literature was analysed, and descriptions of common phenotypic features were quantified. ASXL3 variants were collated and categorised. Common phenotypic features comprised global developmental delay or intellectual disability (97%), feeding problems (76%), hypotonia (88%) and characteristic facial features (93%). The majority of genetic variants were de novo truncating variants in exon 11 or 12 of the ASXL3 gene. Several gaps in our knowledge of this disorder were identified, namely, underlying pathophysiology and disease mechanism, disease contribution of missense variants, relevance of variant location, prevalence and penetrance data. Clinical information is currently limited by patient numbers and lack of longitudinal data, which this review aims to address.
MeSH term(s)	Child ; Humans ; Developmental Disabilities/genetics ; Transcription Factors/genetics ; Phenotype ; Syndrome ; Intellectual Disability/genetics ; Repressor Proteins/genetics ; Abnormalities, Multiple ; Facies ; Neurodevelopmental Disorders
Chemical Substances	Bainbridge-Ropers syndrome ; Transcription Factors ; ASXL3 protein, human ; Repressor Proteins
Language	English
Publishing date	2024-02-29
Publishing country	Denmark
Document type	Journal Article ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14506
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 413: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.

Batey, Natalie / Spiller, Michael / Balasubramanian, Meena

European journal of medical genetics

2022 Volume 65, Issue 4, Page(s) 104470

Abstract: Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe ... ...

Abstract	Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER. Previous studies have reported 20 patients from 13 families. Common features in the cohort reported so far are spinal and rib anomalies but other findings illustrate phenotypic variation. Survival ranges from death within the neonatal period to alive and well at 19 years. We present three siblings with variable phenotype, adding to the evidence for a single definition of BMPER-related skeletal dysplasia. We highlight the need for ongoing care planning and guarded prognostication, with regular review by clinical teams.
MeSH term(s)	Carrier Proteins/genetics ; Dysostoses/genetics ; Humans ; Phenotype ; Spine/abnormalities
Chemical Substances	BMPER protein, human ; Carrier Proteins
Language	English
Publishing date	2022-02-28
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2022.104470
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 84/9: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.

Woods, Emily / Yates, Michael / Kanani, Farah / Balasubramanian, Meena

Clinical dysmorphology

2022 Volume 31, Issue 3, Page(s) 132–135

Abstract: We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This ...

Abstract	We describe a female infant with X-linked chondrodysplasia punctata (CDPX1) as a result of maternal isodisomy of the X chromosome. Targeted Sanger sequencing and targeted next-generation sequencing of ARSL were used to test for the familial variant. This patient was homozygous for ARSL NM_000047.2: c.1227_1228delinsAT p.(Ser410Cys) familial variant, consistent with a diagnosis of CDPX1. Uniparental disomy is a type of chromosomal variation. Although not necessarily pathogenic, it can cause imprinting disorders and X-linked recessive disorders in females, and be a cause of autosomal recessive conditions when only one parent is a carrier. The patient described highlights that uniparental disomy can be a rare cause of X-linked recessive conditions. This mode of inheritance has not been previously described in this condition.
MeSH term(s)	Chondrodysplasia Punctata/diagnosis ; Chondrodysplasia Punctata/genetics ; Female ; Genetic Diseases, X-Linked ; Homozygote ; Humans ; Infant ; Uniparental Disomy/genetics
Language	English
Publishing date	2022-03-07
Publishing country	England
Document type	Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000419
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3528: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: GLMN

McMahon, Mollie Helena / Tahir, Nasim / Balasubramanian, Meena

BMJ case reports

2022 Volume 15, Issue 6

Abstract: Cutaneous venous malformations frequently present with blue-pink lesions on the skin or mucosal surfaces. They can be problematic for patients who experience pain or unsightly lesions and can also be associated with significant bleeding. A proportion of ... ...

Abstract	Cutaneous venous malformations frequently present with blue-pink lesions on the skin or mucosal surfaces. They can be problematic for patients who experience pain or unsightly lesions and can also be associated with significant bleeding. A proportion of venous malformations have been noted to occur in families, in particular glomuvenous malformations (GVMs). A 'two-hit' occurrence of genetic pathogenic variants appears to explain the appearance of GVMs, with the initial change in the germline copy of
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Glomus Tumor/diagnosis ; Humans ; Paraganglioma, Extra-Adrenal ; Skin Neoplasms/pathology ; Vascular Malformations/diagnosis ; Vascular Malformations/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; GLMN protein, human
Language	English
Publishing date	2022-06-22
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2021-246114
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: PLS3 whole gene deletion as a cause of X-linked osteoporosis: Clinical report with review of published PLS3 literature.

Apperley, Louise J / Albaba, Shadi / Dharmaraj, Poonam / Balasubramanian, Meena

Clinical dysmorphology

2022 Volume 32, Issue 1, Page(s) 43–47

Language	English
Publishing date	2022-11-28
Publishing country	England
Document type	Journal Article
ZDB-ID	1121482-x
ISSN	1473-5717 ; 0962-8827
ISSN (online)	1473-5717
ISSN	0962-8827
DOI	10.1097/MCD.0000000000000442
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3528: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

Woods, Emily / Spiller, Michael / Balasubramanian, Meena

American journal of medical genetics. Part A

2021 Volume 188, Issue 3, Page(s) 931–940

Abstract: We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global ... ...

Abstract	We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global developmental delay. The other was detected on whole-exome sequencing as part of second line investigations following normal microarray. Both patients were found to have de novo heterozygous pathogenic TLK2 variants. A novel c.6del p.(Glu3Lysfs*) loss-of-function frameshift variant was found in Patient 1. A c.1121+1G>A splice-donor variant was detected in Patient 2. TLK2-related neurodevelopmental disorder is a specific syndrome that has been recently described. Global developmental delay, behavioral problems, gastrointestinal disorders, and typical facial dysmorphism are common features. Neuropsychiatric disorders, ophthalmic, musculoskeletal and cranial abnormalities, as well as short stature, have also all been described. The novel findings we describe include sleep disturbance, nondifferentiation of lateral semi-circular canals (where asymmetric semi-circular canals were a feature in the previous cohort), vesico-ureteric reflux, and bilateral periauricular skin tags. Here, we report a novel TLK2 variant and previously undescribed features of TLK2-related disorder, to expand the clinical phenotype and provide further genotype-phenotype correlation.
MeSH term(s)	Child ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Genetic Association Studies ; Heterozygote ; Humans ; Intellectual Disability/genetics ; Neurodevelopmental Disorders/genetics ; Phenotype ; Exome Sequencing
Language	English
Publishing date	2021-11-25
Publishing country	United States
Document type	Case Reports ; Research Support, Non-U.S. Gov't ; Review
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.62580
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1376/A: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: MAN1B-CDG: Novel variants with a distinct phenotype and review of literature.

Balasubramanian, Meena / Johnson, Diana S

European journal of medical genetics

2018 Volume 62, Issue 2, Page(s) 109–114

Abstract: Background: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. It comprises a characteristic high frequency of intellectual disability (ID) and a wide range of clinical ... ...

Abstract	Background: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. It comprises a characteristic high frequency of intellectual disability (ID) and a wide range of clinical phenotypes. Objective: To identify the underlying diagnosis in two families each with two siblings with variable level of ID through trio whole exome sequencing. Methods: Both the families were recruited to the Deciphering Developmental Disorders (DDD) study to identify the aetiology for their ID. Further work-up included isoelectric focusing (IEF) of serum transferrin done to add evidence to the molecular diagnosis. Results: These patients were found to have three novel variants in MAN1B1 inherited from their healthy parents. Serum transferrin IEF showed a type 2 pattern. Discussion: MAN1B1 variants were initially described in association with non-syndromic ID; subsequent literature suggested that variants in MAN1B1 resulted in a CDG-type II syndrome. However, there remains a paucity of literature on detailed clinical phenotyping and it still remains a rare form of CDG. The present patients showed the phenotype previously reported in MAN1B1-CDG: a characteristic facial dysmorphism, hypotonia, truncal obesity and in some, behavioural problems. Conclusions: In unexplained ID, serum transferrin should be included in the first-line screening. With advances in genomic medicine, it is important to diagnose CDG as this has implications for management and recurrence risk counselling.
MeSH term(s)	Child ; Congenital Disorders of Glycosylation/genetics ; Congenital Disorders of Glycosylation/pathology ; Craniofacial Abnormalities/genetics ; Craniofacial Abnormalities/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Female ; Humans ; Male ; Mutation ; Pedigree ; Phenotype ; Syndrome ; alpha-Mannosidase/genetics
Chemical Substances	alpha-Mannosidase (EC 3.2.1.24)
Language	English
Publishing date	2018-06-14
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2018.06.011
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 84/9: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus.

Redman, Melody Grace / Wagner, Bart E / Balasubramanian, Meena

European journal of medical genetics

2020 Volume 63, Issue 12, Page(s) 104095

Abstract: As molecular diagnosis of Osteogenesis Imperfecta has become more accessible, there is an increasing ability to consider additional techniques to undertake deep phenotyping of the patient. In this report, we present the details of a female patient with ... ...

Abstract	As molecular diagnosis of Osteogenesis Imperfecta has become more accessible, there is an increasing ability to consider additional techniques to undertake deep phenotyping of the patient. In this report, we present the details of a female patient with type I Osteogenesis Imperfecta caused due to a pathogenic COL1A1 variant, who suffered from uterine rupture during labour in her second pregnancy, at age 33. Her presentation, patient journey, and histological results are described. Collagen flowers were identified with electron microscopy of a skin biopsy, and the significance of these are explored. Two other recorded cases of women with Osteogenesis Imperfecta who developed uterine rupture are discussed. This report demonstrates the potential role for ultrastructural tissue examination and deep phenotyping, to allow further insights into the relationship between genotype and phenotype.
MeSH term(s)	Adult ; Collagen Type I/genetics ; Cytodiagnosis/standards ; Female ; Genetic Testing/standards ; Humans ; Osteogenesis Imperfecta/diagnosis ; Osteogenesis Imperfecta/genetics ; Phenotype ; Pregnancy ; Skin/ultrastructure ; Uterine Rupture/diagnosis ; Uterine Rupture/genetics
Chemical Substances	Collagen Type I ; collagen type I, alpha 1 chain
Language	English
Publishing date	2020-11-06
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.2020.104095
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 84/9: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility.

Anderson, Elizabeth / Lam, Zena / Arundel, Paul / Parker, Michael / Balasubramanian, Meena

Clinical genetics

2021 Volume 100, Issue 3, Page(s) 352–354

MeSH term(s)	Adolescent ; Bone Diseases, Developmental/genetics ; Bone Diseases, Developmental/pathology ; Bone and Bones/physiopathology ; Child ; Female ; Humans ; Male ; Methyltransferases/genetics ; Phenotype
Chemical Substances	Methyltransferases (EC 2.1.1.-) ; SETD5 protein, human (EC 2.1.1.-)
Language	English
Publishing date	2021-06-24
Publishing country	Denmark
Document type	Case Reports ; Letter
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14014
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 413: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

To top

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito