326 results on '"Annerén, Göran"'
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2. Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions
3. A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
4. DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
5. Gustavson syndrome is caused by an in-frame deletion in RBMXassociated with potentially disturbed SH3 domain interactions
6. TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
7. A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
8. Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?
9. Prevalence of autism and attention‐deficit–hyperactivity disorder in Down syndrome: a population‐based study
10. Environmental Tobacco Smoke and Risk of Spontaneous Abortion
11. Midwives and information on prenatal testing with focus on Down syndrome†
12. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis
13. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)
14. Information and knowledge about Down syndrome among women and partners after first trimester combined testing
15. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
16. Clinical variability of the 22q11.2 duplication syndrome
17. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome
18. Additional file 6 of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
19. Additional file 4 of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
20. MOESM6 of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
21. Additional file 1 of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
22. Additional file 2 of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors
23. Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation
24. Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)
25. Changes in mortality and causes of death in the Swedish Down syndrome population
26. FISH-mapping of a 100-kb terminal 22q13 deletion
27. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype
28. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?
29. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins
30. Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21–q22
31. Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene
32. An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study
33. Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses
34. Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome
35. Clinical and Molecular Characterization of Individuals With 18p Deletion:: A Genotype–Phenotype Correlation
36. Chromosomal anomalies in first-trimester miscarriages
37. Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism
38. Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p
39. Autism needs to be considered in children with Down Syndrome
40. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
41. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses
42. More severe intellectual disability found in teenagers compared to younger children with Down syndrome
43. Trisomy 4q syndrome: presentation of a new case and review of the literature
44. Caffeine metabolism and the risk of spontaneous abortion of normal karyotype fetuses
45. An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study.
46. More severe intellectual disability found in teenagers compared to younger children with Down syndrome.
47. A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another
48. Genotype–phenotype analysis of 18q12.1-q12.2 copy number variation in autism
49. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features
50. Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study
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