CCL

Összesen 3 találat.
#/oldal:
Részletezés:
Rendezés:

1.

001-es BibID:BIBFORM059960
Első szerző:Bessenyei Beáta (molekuláris biológus)
Cím:Clinical and genetic characteristics of craniosynostosis in Hungary / Beáta Bessenyei, Andrea Nagy, Katalin Szakszon, Attila Mokánszki, Erzsébet Balogh, Anikó Ujfalusi, Mariann Tihanyi, László Novák, László Bognár, Éva Oláh
Dátum:2015
ISSN:1552-4825
Megjegyzések:Craniosynostosis, the premature closure of cranial sutures, is a common craniofacial disorder with heterogeneous etiology and appearance. The purpose of this study was to investigate the clinical and molecular characteristics of craniosynostoses in Hungary, including the classification of patients and the genetic analysis of the syndromic forms. Between 2006 and 2012, 200 patients with craniosynostosis were studied. Classification was based on the suture(s) involved and the associated clinical features. In syndromic cases, genetic analyses, including mutational screening of the hotspot regions of the FGFR1, FGFR2, FGFR3, andTWIST1 genes, karyotyping and FISH study ofTWIST1, were performed. The majority (88%) of all patients with craniosynostosiswere nonsyndromic. The sagittal suturewasmost commonly involved, followed by the coronal, metopic, and lambdoid sutures. Male, twin gestation, and very low birth weight were risk factors for craniosynostosis. Syndromic craniosynostosis was detected in 24 patients. In 17 of these patients, Apert, Crouzon, Pfeiffer,Muenke, or Saethre-Chotzen syndromes wereidentified. In one patient, multiple-suture craniosynostosis was associated with achondroplasia. Clinical signs were not typical for any particular syndrome in six patients. Genetic abnormalities were detected in 18 syndromic patients and in 8 relatives. In addition to 10 different, known mutations in FGFR1,FGFR2 or FGFR3, one novel missense mutation, c.528C>G(p.Ser176Arg), was detected in the TWIST1 gene of a patient with Saethre- Chotzen syndrome. Our results indicate that detailed clinical assessment is of paramount importance in the classification of patients and allows indication of targeted molecular testing with the highest possible diagnostic yield.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
craniosynostosis
risk factors
fibroblast growth factor receptor
novel mutation
dysmorphism
limb defects
Megjelenés:American Journal Of Medical Genetics Part A 167A : 12 (2015), p. 2985-2991. -
További szerzők:Nagy Andrea (1958-) (csecsemő és gyermekgyógyász, neonatológus) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Balogh Erzsébet (1949-) (biológus, citogenetikus) Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Tihanyi Mariann Novák László (1964-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus)
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

2.

001-es BibID:BIBFORM055201
Első szerző:Bessenyei Beáta (molekuláris biológus)
Cím:Variable expressivity of Pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation / Beáta Bessenyei, Mariann Tihanyi, Marianna Hartwig, Katalin Szakszon, Éva Oláh
Dátum:2014
ISSN:1552-4825
Megjegyzések:Pfeiffer syndrome is an autosomal dominant disorder classically characterized by craniosynostosis, facial dysmorphism and limb anomalies. The majority of cases are caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. A specific, rare mutation p.Pro252Arg, located between the second and third extracellular immunoglobulin-like domain of FGFR1, is associated with mild clinical signs. We report on a three-generation family with five members having a heterozygous FGFR1 p.Pro252Arg mutation. Phenotypic features within the family showed high variability from the apparently normal skull and limbs to the characteristic brachycephaly and digital anomalies. The typical features of Pfeiffer syndrome appeared only in the third generation allowing us to unveil the syndrome in several further family members in two previous generations. Variable expressivity can complicate the recognition of Pfeiffer syndrome, principally the mild type 1, requiring careful phenotyping and genetic counseling.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:American Journal Of Medical Genetics Part A. - 164A : 12 (2014), p. 3176-3179. -
További szerzők:Tihanyi Mariann Hartwig Marianna Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus)
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

3.

001-es BibID:BIBFORM116049
035-os BibID:(Scopus)85165349246 (WOS)001027292300001
Első szerző:Kárteszi Judit
Cím:Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy / Kárteszi Judit, Ziegler Alban, Tihanyi Mariann, Elmont Beatrix, Zhang Yuebo, Patócs Barbara, Molnár Mária Judit, Méhes Gábor, Wells Kirsty, Jakus Rita, Bessenyei Beáta, Ranatunga Wasantha, Morava Éva
Dátum:2023
ISSN:1552-4825
Megjegyzések:Mitogen-activated protein kinase 8-interacting protein 3 gene (MAPK8IP3) encodes the c-Jun-amino-terminal kinase-interacting protein 3 (JIP3) and is involved in retrograde axonal transport. Heterozygous de novo pathogenic variants in MAPK8IP3 result in a neurodevelopmental disorder with or without brain abnormalities and possible axonal peripheral neuropathy. Whole-exome sequencing was performed on an individual presenting with severe congenital muscle hypotonia of neuronal origin mimicking lethal spinal muscular atrophy. Compound heterozygous rare variants (a splice and a missense) were detected in MAPK8IP3, inherited from the healthy parents. Western blot analysis in a muscle biopsy sample showed a more than 60% decrease in JIP3 expression. Here, we suggest a novel autosomal recessive phenotype of a lower motor neuron disease caused by JIP3 deficiency.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
autosomal recessive
JIP3 deficiency
lower motor neuron disease
MAPK8IP3
Megjelenés:American Journal Of Medical Genetics Part A. - 191 : 9 (2023), p. 2428-2432. -
További szerzők:Ziegler, Alban Tihanyi Mariann Elmont Beatrix Zhang, Yuebo Patócs Barbara Molnár Mária Judit (1962-) (neurológus) Méhes Gábor (1966-) (patológus) Wells, Kirsty Jakus Rita Bessenyei Beáta (1974-) (molekuláris biológus) Ranatunga, Wasantha Morava Éva
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Rekordok letöltése1