Search

Your search keyword '"Anneren, G"' showing total 107 results
Start Over Author "Anneren, G"
107 results on '"Anneren, G"'

1. Growth charts for Down's syndrome from birth to 18 years of age. (Original Article)

Author

Myrelid, A., Gustafsson, J., Ollars, B., and Anneren, G.

Subjects
Child development deviations -- Physiological aspects -- Measurement, Stature -- Measurement -- Growth, Down syndrome -- Physiological aspects -- Measurement, Developmental disabilities -- Physiological aspects -- Measurement, Developmentally disabled children -- Growth -- Measurement -- Physiological aspects, Family and marriage, Health, Company growth, Physiological aspects, Growth, Measurement
Abstract

Arch Dis Child 2002;87:97-103 Background: Growth in children with Down's syndrome (DS) differs markedly from that of normal children. The use of DS specific growth charts is important for diagnosis [...]

Published
2002

4. Sickness Absence in Swedish Parents of Children with Down's Syndrome: Relation to Self-Perceived Health, Stress and Sense of Coherence

Author

Hedov, G., Wikblad, K., and Anneren, G.

Abstract

Background: The aims of present study were to study sickness absence among Swedish parents of children with Down's syndrome (DS) and to compare their rates of absence with those of control parents. Sickness absence data for 165 DS parents were compared with those for 174 control parents; all data were for the period 1997-2000. Sickness absence rates were also related to parental self-perceived health, stress and sense of coherence. Methods: The self-administrated measures of parental self-perceived health, stress and sense of coherence were compared with the number of days of sickness absence. Results: In about two-thirds of the parents in both the study and the control group, no days of sickness absence were registered. Six of the DS parents had remarkably large numbers of days of sickness absence (more than 100 per year). None of the control parents had such high sickness absence rates. It is speculated that there is a small group (less than 5%) of parents who are more vulnerable to the birth of a child with DS. Apart from these six DS parents, sickness absence was not more frequent among the DS parents than among the control parents. DS parents stayed at home to care for their sick DS child three times more often than control parents did for their non-disabled child. DS fathers took greater responsibility in the care of their temporarily sick child and stayed at home to care for the child even more often than control mothers did. DS parents with sickness periods experienced small deterioration in self-perceived health, significantly higher stress and decreased sense of coherence in comparison with parents without sickness periods. Conclusions: There was a great similarity in sick leave rates due to one's own sickness between DS and control parents, but a small group of DS parents (less than 5%) may be more vulnerable. DS fathers stayed at home to care for their sick DS child remarkably often.

Published
2006
Full Text
View/download PDF

10. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H, Haas, S.A., Chelly, J., Esch, H. Van, Raynaud, M., Brouwer, A.P. de, Weinert, S., Froyen, G., Frints, S.G., Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A.K., Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink, W.M., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., Roozendaal, K.E. van, Jimenez-Pocquet, M., Moizard, M.P., Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Bommel, A. van, Goke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Muller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L.B., Wieacker, P., Rodriguez Criado, G., Bondeson, M.L., Anneren, G., Dufke, A., Cohen, M., Maldergem, L. Van, Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M.H., Fryns, J.P., Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., Bokhoven, H. van, Gecz, J., Jentsch, T.J., Chen, W., Ropers, H.H., Kalscheuer, V.M., Hu, H, Haas, S.A., Chelly, J., Esch, H. Van, Raynaud, M., Brouwer, A.P. de, Weinert, S., Froyen, G., Frints, S.G., Laumonnier, F., Zemojtel, T., Love, M.I., Richard, H., Emde, A.K., Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink, W.M., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M.A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K.L., Belet, S., Roozendaal, K.E. van, Jimenez-Pocquet, M., Moizard, M.P., Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Bommel, A. van, Goke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Muller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L.B., Wieacker, P., Rodriguez Criado, G., Bondeson, M.L., Anneren, G., Dufke, A., Cohen, M., Maldergem, L. Van, Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M.H., Fryns, J.P., Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T.F., Tzschach, A., Bokhoven, H. van, Gecz, J., Jentsch, T.J., Chen, W., Ropers, H.H., and Kalscheuer, V.M.

Abstract

Contains fulltext : 168284.pdf (Publisher’s version ) (Open Access), X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016

11. 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

Author

Linhares, ND, Menezes Freire, MC, do Carmo Lisboa Cardenas, RGC, Pena, HB, Lachlan, K, Dallapiccola, B, Bacino, C, Delobel, B, James, P, Thuresson, A-C, Anneren, G, Pena, SDJ, Linhares, ND, Menezes Freire, MC, do Carmo Lisboa Cardenas, RGC, Pena, HB, Lachlan, K, Dallapiccola, B, Bacino, C, Delobel, B, James, P, Thuresson, A-C, Anneren, G, and Pena, SDJ

Abstract

Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.

Published
2016

13. Preventing neural tube defects in Europe: A missed opportunity (vol 20, pg 393, 2005)

Author

Busby, A, Abramsky, L, Dolk, H, Armstrong, B, Addor, MC, Anneren, G, Armstrong, N, Baguette, A, Barisic, [No Value], Berghold, A, Bianca, S, Braz, P, Calzolari, E, Christiansen, M, Cocchi, G, Daltveit, AK, De Walle, H, Edwards, G, Gatt, M, Gener, B, Gillerot, Y, Gjergja, R, Goujard, J, Haeusler, M, Latos-Bielenska, A, McDonnell, R, Neville, A, Olars, B, Portillo, [No Value], Ritvanen, A, Robert-Gnansia, E, Rosch, C, Scarano, G, Steinbicker, [No Value], and Reproductive Origins of Adult Health and Disease (ROAHD)

Published
2006

15. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Author

Helsmoortel, C., Silfhout, A.T. van, Coe, B.P., Vandeweyer, G., Rooms, L., Ende, J. van den, Schuurs-Hoeijmakers, J.H.M., Marcelis, C.L.M., Willemsen, M.H., Vissers, L.E.L.M., Yntema, H.G., Bakshi, M., Wilson, M., Witherspoon, K.T., Malmgren, H., Nordgren, A., Anneren, G., Fichera, M., Bosco, P., Romano, C, Vries, L.B.A. de, Kleefstra, T., Kooy, R.F., Eichler, E.E., Aa, N. van der, Helsmoortel, C., Silfhout, A.T. van, Coe, B.P., Vandeweyer, G., Rooms, L., Ende, J. van den, Schuurs-Hoeijmakers, J.H.M., Marcelis, C.L.M., Willemsen, M.H., Vissers, L.E.L.M., Yntema, H.G., Bakshi, M., Wilson, M., Witherspoon, K.T., Malmgren, H., Nordgren, A., Anneren, G., Fichera, M., Bosco, P., Romano, C, Vries, L.B.A. de, Kleefstra, T., Kooy, R.F., Eichler, E.E., and Aa, N. van der

Abstract

Contains fulltext : 137247.pdf (publisher's version ) (Closed access), Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent deficits in social communication and interaction and restricted, repetitive patterns of behavior, interests or activities, a genetic diagnosis can be established in only a minority of patients. Known genetic causes include chromosomal aberrations, such as the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes. The genetic heterogeneity within ASD is striking, with even the most frequent causes responsible for only 1% of cases at the most. Even with the recent developments in next-generation sequencing, for the large majority of cases no molecular diagnosis can be established. Here, we report ten patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by a mutation in ADNP, a transcription factor involved in the SWI/SNF remodeling complex. We estimate this gene to be mutated in at least 0.17% of ASD cases, making it one of the most frequent ASD-associated genes known to date.

Published
2014

17. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Author

Molin, A.M., Andrieux, J., Koolen, D.A., Malan, V., Carella, M., Colleaux, L., Cormier-Daire, V., David, A., Leeuw, N. de, Delobel, B., Duban-Bedu, B., Fischetto, R., Flinter, F., Kjaergaard, S., Kok, F., Krepischi, A.C., Caignec, C. Le, Ogilvie, C.M., Maia, S., Mathieu-Dramard, M., Munnich, A., Palumbo, O., Papadia, F., Pfundt, R., Reardon, W., Receveur, A., Rio, M. del, Ronsbro Darling, L., Rosenberg, C., Sa, J., Vallee, L., Vincent-Delorme, C., Zelante, L., Bondeson, M.L., Anneren, G., Molin, A.M., Andrieux, J., Koolen, D.A., Malan, V., Carella, M., Colleaux, L., Cormier-Daire, V., David, A., Leeuw, N. de, Delobel, B., Duban-Bedu, B., Fischetto, R., Flinter, F., Kjaergaard, S., Kok, F., Krepischi, A.C., Caignec, C. Le, Ogilvie, C.M., Maia, S., Mathieu-Dramard, M., Munnich, A., Palumbo, O., Papadia, F., Pfundt, R., Reardon, W., Receveur, A., Rio, M. del, Ronsbro Darling, L., Rosenberg, C., Sa, J., Vallee, L., Vincent-Delorme, C., Zelante, L., Bondeson, M.L., and Anneren, G.

Abstract

1 februari 2012, Item does not contain fulltext, BACKGROUND: Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype-phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. METHODS: Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. RESULTS: The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. CONCLUSION: A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.

Published
2012

22. FISH-mapping of a 100-kb terminal 22q13 deletion.

Author

Anderlid, BM, Schoumans, J, Anneren, G, Tapia-Paez, I, Dumanski, J, Blennow, E, Nordenskjold, M, Anderlid, BM, Schoumans, J, Anneren, G, Tapia-Paez, I, Dumanski, J, Blennow, E, and Nordenskjold, M

Published
2002

24. Swedish parents of children with Down's syndrome : Parental stress and sense of coherence in relation to employment rate and time spent in child care

Author

Hedov, G., Anneren, G., Wikblad, Karin, Hedov, G., Anneren, G., and Wikblad, Karin

Abstract

Becoming parents of a child with Down's syndrome (DS) challenges the adjustment ability in parenthood. Individuals with higher sense of coherence (SOC) are supposed to manage stressors better than those with lower SOC. The aims of this study were to investigate parental self-perceived stress, SOC, frequency of gainful employment and amount of time spent on child care in Swedish DS parents (165 parents, 86 mothers, 79 fathers) and to compare those with control parents of healthy children (169 parents, 87 mothers, 82 fathers). The mean age of the children was 4.7 years. Parents responded to questionnaires separately including Hymovich's Parent Perception Inventory as stress measurement and Antonovsky's short version of the Orientation to Life. No differences concerning total employment rate were observed, but the DS mothers were more often employed part-time than control mothers. The DS parents did not spend more time on child care than the control parents and they did not differ in mean SOC score, but the DS parents perceived greater stress. The differences in stress, particularly between the DS and control mothers, were related to time-demanding areas. Parents with high SOC scores experienced significantly less self-perceived stress.

Published
2002
Full Text
View/download PDF

25. First information and support provided to parents of children with Down syndrome in Sweden : clinical goals and parental experiences

Author

Hedov, G, Wikblad, K, Anneren, G, Hedov, G, Wikblad, K, and Anneren, G

Abstract

When parents are informed that their newborn child has Down syndrome (DS), they often respond with a traumatic crisis reaction. The aims of this study were to assess the clinical goals regarding the first information and support provided to parents of newborn children with DS at the Swedish paediatric departments, and to analyse the parents' experiences of how they were first informed and treated. Data were collected during 1992-1993 from all of the 51 departments of paediatrics in Sweden. Information on the parents' experiences, collected retrospectively in 1996, was based on recollection by 165 parents of 86 children with DS born between 1989 and 1993 at 10 of the paediatric departments considered representative for Sweden. Seventy-five percent of the families were informed about the diagnosis within 24 h post partum. Some parents felt they were informed too late, and a few parents that they were told too soon. Half of the parents were satisfied with the timing. About 70% of the parents considered the information insufficient and 60% felt that they had been unsupported. Seventy percent would have liked more frequent information. Parental criticisms concerning the way in which the information was provided were that they received too much negative information about DS and that both the communication skills and the basic knowledge of DS on the part of the professionals could have been better. Conclusion: The Swedish paediatric departments fall short of their reported strong clinical goals regarding the initial information in Sweden, and improvements in this area are desirable.

Published
2002

30. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

Author

Karadima, G, Bugge, M, Nicolaidis, P, Vassilopoulos, D, Avramopoulos, D, Grigoriadou, M, Albrecht, B, Passarge, E, Anneren, G, Blennow, E, Clausen, N, Galla-Voumvouraki, A, Tsezou, A, Kitsiou-Tzeli, S, Hahnemann, JM, Hertz, JM, Houge, G, Kuklik, M, Macek, M, Lacombe, D, Miller, K, Moncla, A, Lopez Pajares, I, Patsalis, PC, Petersen, MB, et, al, Karadima, G, Bugge, M, Nicolaidis, P, Vassilopoulos, D, Avramopoulos, D, Grigoriadou, M, Albrecht, B, Passarge, E, Anneren, G, Blennow, E, Clausen, N, Galla-Voumvouraki, A, Tsezou, A, Kitsiou-Tzeli, S, Hahnemann, JM, Hertz, JM, Houge, G, Kuklik, M, Macek, M, Lacombe, D, Miller, K, Moncla, A, Lopez Pajares, I, Patsalis, PC, Petersen, MB, and et, al

Published
1999

38. Identification and analysis of mutations in the Wilson disease genetype correlation, and functional analyses.

Author

Shah, AB, Chernov, I, Zhang, HT, Ross, BM, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenskaya, IA, Anneren, G, Westermark, K, Urrutia, FH, Penchaszadeh, GK, Sternlieb, I, Scheinberg, IH, Gilliam, TC, Petrukhin, K, Shah, AB, Chernov, I, Zhang, HT, Ross, BM, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenskaya, IA, Anneren, G, Westermark, K, Urrutia, FH, Penchaszadeh, GK, Sternlieb, I, Scheinberg, IH, Gilliam, TC, and Petrukhin, K

Published
1997

40. Indentification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies; Genotype - Phenotype correlation; and Functional analyses

Author

Shah, AB, Chernov, I, Zhang, HT, Ross, BM, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenkaya, I, Anneren, G, Westermark, Kerstin, Urrutia, FH, Penchaszadeh, GK, Sternlieb, I, Scheinberg, H, Gilliam, TC, Petrukhin, K, Shah, AB, Chernov, I, Zhang, HT, Ross, BM, Das, K, Lutsenko, S, Parano, E, Pavone, L, Evgrafov, O, Ivanova-Smolenkaya, I, Anneren, G, Westermark, Kerstin, Urrutia, FH, Penchaszadeh, GK, Sternlieb, I, Scheinberg, H, Gilliam, TC, and Petrukhin, K

Published
1997

Catalog

Books, media, physical & digital resources
See catalog results