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brunner, HI

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At the request of the Journal's Editor, the Publisher and the authors, the following article has been retracted. Li J, Jones JT, Donnelly C, Cunningham N, Kashikar-Zuck S and Brunner HI. Pain predicts poorer health-related quality of life in childhood-onset systemic lupus erythematosus: a cohort study. Journal of International Medical Research. Epub ahead of print 6 December 2017. DOI: 10.1177/0300060517732486 . The article has been retracted from Journal of International Medical Research because the co-authors of the paper had not consented to the paper's submission for publication, and because the paper does not present the complete findings of the authors' research...
April 2018: Journal of International Medical Research
Stefan H Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A Veltman, Han G Brunner, Lisenka E L M Vissers, Christian Gilissen
Haploinsufficiency (HI) is the best characterized mechanism through which dominant mutations exert their effect and cause disease. Non-haploinsufficiency (NHI) mechanisms, such as gain-of-function and dominant-negative mechanisms, are often characterized by the spatial clustering of mutations, thereby affecting only particular regions or base pairs of a gene. Variants leading to haploinsufficency might occasionally cluster as well, for example in critical domains, but such clustering is on the whole less pronounced with mutations often spread throughout the gene...
September 7, 2017: American Journal of Human Genetics
Charlotte H W Wijers, Ivo de Blaauw, Carlo L M Marcelis, Rene M H Wijnen, Han Brunner, Paola Midrio, Piergiorgio Gamba, Maurizio Clementi, Ekkehart Jenetzky, Nadine Zwink, Heiko Reutter, Enrika Bartels, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Stuart Hosie, Stefanie Märzheuser, Eberhard Schmiedeke, Célia Crétolle, Sabine Sarnacki, Marc A Levitt, Nine V A M Knoers, Nel Roeleveld, Iris A L M van Rooij
PURPOSE: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities. METHODS: The consortium attempts to recruit at least 1,000 ARM cases. DNA samples are collected from case-parent triads to identify genetic factors involved in ARM. Several genetic techniques will be applied, including SNP arrays, gene and whole exome sequencing, and a genome-wide association study...
November 2010: Pediatric Surgery International
Rob W J Collin, Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik, Kwanghyuk Lee, Zubair M Ahmed, Refik Caylan, Yun Li, Henk A Spierenburg, Erol Eyupoglu, Angelien Heister, Saima Riazuddin, Elif Bahat, Muhammad Ansar, Selcuk Arslan, Bernd Wollnik, Han G Brunner, Cor W R J Cremers, Ahmet Karaguzel, Wasim Ahmad, Frans P M Cremers, Gert Vriend, Thomas B Friedman, Sheikh Riazuddin, Suzanne M Leal, Hannie Kremer
In a large consanguineous family of Turkish origin, genome-wide homozygosity mapping revealed a locus for recessive nonsyndromic hearing impairment on chromosome 14q24.3-q34.12. Fine mapping with microsatellite markers defined the critical linkage interval to a 18.7 cM region flanked by markers D14S53 and D14S1015. This region partially overlapped with the DFNB35 locus. Mutation analysis of ESRRB, a candidate gene in the overlapping region, revealed a homozygous 7 bp duplication in exon 8 in all affected individuals...
January 2008: American Journal of Human Genetics
Ersan Kalay, Abdullah Uzumcu, Elmar Krieger, Refik Caylan, Oya Uyguner, Melike Ulubil-Emiroglu, Hidayet Erdol, Hülya Kayserili, Gunter Hafiz, Nermin Başerer, Angelien J G M Heister, Hans C Hennies, Peter Nürnberg, Seher Başaran, Han G Brunner, Cor W R J Cremers, Ahmet Karaguzel, Bernd Wollnik, Hannie Kremer
Myosin XVA is an unconventional myosin which has been implicated in autosomal recessive nonsyndromic hearing impairment (ARNSHI) in humans. In Myo15A mouse models, vestibular dysfunction accompanies the autosomal recessive hearing loss. Genomewide homozygosity mapping and subsequent fine mapping in two Turkish families with ARNSHI revealed significant linkage to a critical interval harboring a known deafness gene MYO15A on chromosome 17p13.1-17q11.2. Subsequent sequencing of the MYO15A gene led to the identification of a novel missense mutation, c...
October 15, 2007: American Journal of Medical Genetics. Part A
Rob W J Collin, Ersan Kalay, Jaap Oostrik, Refik Caylan, Bernd Wollnik, Selçuk Arslan, Anneke I den Hollander, Yelda Birinci, Peter Lichtner, Tim M Strom, Bayram Toraman, Lies H Hoefsloot, Cor W R J Cremers, Han G Brunner, Frans P M Cremers, Ahmet Karaguzel, Hannie Kremer
In a consanguineous Turkish family, a locus for autosomal recessive nonsyndromic hearing impairment (ARNSHI) was mapped to chromosome 2q31.1-2q33.1. Microsatellite marker analysis in the complete family determined the critical linkage interval that overlapped with DFNB27, for which the causative gene has not yet been identified, and DFNB59, a recently described auditory neuropathy caused by missense mutations in the DFNB59 gene. The 352-amino acid (aa) DFNB59 gene product pejvakin is present in hair cells, supporting cells, spiral ganglion cells, and the first three relays of the afferent auditory pathway...
July 2007: Human Mutation
E Kalay, R Caylan, A F Kiroglu, T Yasar, R W J Collin, J G A M Heister, J Oostrik, C W R J Cremers, H G Brunner, A Karaguzel, H Kremer
Hereditary hearing impairment is a genetically heterogeneous disorder. To date, 49 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been described, and there are more than 16 additional loci announced. In 25 of the known loci, causative genes have been identified. A genome scan and fine mapping revealed a novel locus for ARNSHI (DFNB63) on chromosome 11q13.2-q13.4 in a five-generation Turkish family (TR57). The homozygous linkage interval is flanked by the markers D11S1337 and D11S2371 and spans a 5...
April 2007: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
Nadia Corazza, Thomas Brunner, Caroline Buri, Silvia Rihs, Martin A Imboden, Inge Seibold, Christoph Mueller
BACKGROUND & AIMS: Tumor necrosis factor (TNF) is cleaved proteolytically from a 26-kilodalton transmembrane precursor protein into secreted 17-kilodalton monomers. Transmembrane (tm) and secreted trimeric TNF are biologically active and may mediate distinct activities. We assessed the consequences of a complete inhibition of TNF processing on the course of colitis in recombination activating gene (RAG)2 -/- mice on transfer of CD4 CD45RB hi T cells. METHODS: TNF -/- mice, transgenic for a noncleavable mutant TNF gene, were used as donors of CD4 T cells, and, on a RAG2 -/- background, also as recipients...
September 2004: Gastroenterology
Mirjam W J Luijendijk, Erwin Van Wijk, Anne M L C Bischoff, Elmar Krieger, Patrick L M Huygen, Ronald J E Pennings, Han G Brunner, Cor W R J Cremers, Frans P M Cremers, Hannie Kremer
Myosin VIIA is an unconventional myosin that has been implicated in Usher syndrome type 1B, atypical Usher syndrome, non-syndromic autosomal recessive hearing impairment (DFNB2) and autosomal dominant hearing impairment (DFNA11). Here, we present a family with non-syndromic autosomal dominant hearing impairment that clinically resembles the previously published DFNA11 family. The affected family members show a flat audiogram at young ages and only modest progression, most clearly at the high frequencies. In addition, they suffer from minor vestibular symptoms...
July 2004: Human Genetics
M W J Luijendijk, T J R van de Pol, G van Duijnhoven, A I den Hollander, J ten Caat, V van Limpt, H G Brunner, H Kremer, F P M Cremers
To identify novel genes that are expressed specifically or preferentially in the cochlea, we constructed a cDNA library enriched for human cochlear cDNAs using a suppression subtractive hybridization technique. We analyzed 2640 clones by sequencing and BLAST similarity searches. One hundred and fifty-five different cDNA fragments mapped in nonsyndromic hearing impairment loci for which the causative gene has not been cloned yet. Approximately 30% of the clones show no similarity to any known human gene or expressed sequence tag (EST)...
October 2003: Genomics
R J C Admiraal, Y M Szymko, A J Griffith, H G Brunner, P L M Huygen
No abstract text is available yet for this article.
2002: Advances in Oto-rhino-laryngology
G A Brunner, S Hirschberger, G Sendlhofer, A Wutte, M Ellmerer, B Balent, L Schaupp, G J Krejs, T R Pieber
AIMS: In intensified insulin therapy, the recent development of short-acting insulin analogues with a very rapid onset of action forces a new discussion in terms of the optimal injection-meal interval. This study evaluated prandial glycaemia in patients with Type 1 diabetes following the subcutaneous injection of soluble human insulin (HI) and the insulin analogue insulin aspart (IAsp) at different injection-meal intervals and investigated whether administration of IAsp after the meal might provide satisfactory metabolic control...
May 2000: Diabetic Medicine: a Journal of the British Diabetic Association
R J Admiraal, H G Brunner, T L Dijkstra, P L Huygen, C W Cremers
OBJECTIVE: Evaluation of hearing impairment as a feature of the nonocular Stickler syndrome (type II) linked to COL11A2. STUDY DESIGN: Family study. METHODS: General, orthopaedic, ophthalmologic, and otorhinolaryngologic examinations were performed on 15 affected persons in a Dutch family. Audiograms were obtained and/or retrieved from elsewhere. Cross-sectional and longitudinal analyses were conducted on the hearing threshold (sensorineural component) in relation to the patient's age to evaluate whether hearing impairment was progressive...
March 2000: Laryngoscope
P R Vogt, H P Brunner-LaRocca, M Rist, G Zünd, M Genoni, M Lachat, U Niederhäuser, M I Turina
OBJECTIVE: Late outcome after mitral valve repair was examined to define preoperative predictors of recurrent atrial fibrillation late after successful mitral valve reconstruction. METHODS: One hundred and eighty-nine patients, 112 with preoperative sinus rhythm and 72 with preoperative chronic or intermittent atrial fibrillation, were followed for 12.2 +/- 10 years after valve repair. Clinic, hemodynamic end echocardiographic data were entered into Cox-regression and Kaplan-Meyer analysis to assess predictors for recurrent atrial fibrillation late after successful mitral valve repair...
June 1998: European Journal of Cardio-thoracic Surgery
R J Ensink, C W Cremers, H G Brunner
An inherited middle ear anomaly that was causing hearing impairment in a 12-year-old girl was treated successfully by a stapedotomy combined with a malleovestibulopexy. Cup-shaped ears, abnormal or absent thumbs, and skeletal deformities of the forearms were present in several members of 3 generations of a family. An autosomal dominant pattern of inheritance was recognized. These features are present in a number of previously described syndromes, but they correspond best with the lacrimoauriculodentodigital syndrome...
January 1997: Archives of Otolaryngology—Head & Neck Surgery
H G Brunner, B Smeets, D Smeets, M Nelen, C W Cremers, H H Ropers
No abstract text is available yet for this article.
1991: Annals of the New York Academy of Sciences
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