Found: 51
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Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden.
- Published in:
- 2004
- By:
- Publication type:
- journal article
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Partial Trisomy 3q (3q25→qter) Syndrome in Two Siblings.
- Published in:
- Acta Paediatrica, 1984, v. 73, n. 2, p. 281, doi. 10.1111/j.1651-2227.1984.tb09947.x
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- Publication type:
- Article
Information and knowledge about Down syndrome among women and partners after first trimester combined testing.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2015, v. 94, n. 3, p. 329, doi. 10.1111/aogs.12560
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- Publication type:
- Article
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 579, doi. 10.1002/ajmg.a.36313
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- Publication type:
- Article
Changes in mortality and causes of death in the Swedish Down syndrome population.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 642, doi. 10.1002/ajmg.a.35706
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- Publication type:
- Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
- Published in:
- Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
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- Publication type:
- Article
Thyroid antibodies are not a risk factor for pregnancies with Down syndrome.
- Published in:
- 1995
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- Publication type:
- journal article
Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: prevalence and characterization by fluorescence in situ hybridization.
- Published in:
- 1994
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- Publication type:
- journal article
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type).
- Published in:
- 1992
- By:
- Publication type:
- journal article
Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085313
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- Publication type:
- Article
Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Chromosome aberrations in an alpha-fetoprotein-producing hepatoblastoma.
- Published in:
- Genes, Chromosomes & Cancer, 1992, v. 4, n. 1, p. 99, doi. 10.1002/gcc.2870040117
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- Publication type:
- Article
Celiac disease in relation to immunologic serum markers, trace elements, and HLA-DR and DQ antigens in Swedish children with Down syndrome.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation.
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 162, doi. 10.1007/s00439-005-0122-9
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- Publication type:
- Article
FISH-mapping of a 100-kb terminal 22q13 deletion.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 439, doi. 10.1007/s00439-002-0713-7
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- Publication type:
- Article
Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism.
- Published in:
- Human Genetics, 2002, v. 110, n. 2, p. 145, doi. 10.1007/s00439-002-0680-z
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- Publication type:
- Article
Increase in β-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2007, v. 24, n. 5, p. 369, doi. 10.1159/000109215
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- Publication type:
- Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
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- Publication type:
- Article
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 534, doi. 10.1038/ejhg.2010.215
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- Publication type:
- Article
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 928, doi. 10.1038/sj.ejhg.5201433
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- Publication type:
- Article
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 260, doi. 10.1038/sj.ejhg.5201309
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- Publication type:
- Article
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 432, doi. 10.1038/sj.ejhg.5200212
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- Publication type:
- Article
Hypervariable allelic expression patterns of the imprinted IGF2 gene in tumor cells.
- Published in:
- Oncogene, 1998, v. 16, n. 1, p. 113, doi. 10.1038/sj.onc.1201501
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- Publication type:
- Article
The Swedish Birth Defects Registry: Ascertainment and incidence of spina bifida and cleft lip/palate.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2009, v. 88, n. 6, p. 654, doi. 10.1080/00016340902934696
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- Publication type:
- Article
Chromosomal anomalies in first-trimester miscarriages.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2005, v. 84, n. 11, p. 1103, doi. 10.1111/j.0001-6349.2005.00882.x
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- Publication type:
- Article
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 118, doi. 10.1111/cge.13543
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- Publication type:
- Article
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
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- Publication type:
- Article
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 402, doi. 10.1002/mgg3.81
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- Publication type:
- Article
DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0803-1
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- Publication type:
- Article
Lowe's oculocerebrorenal syndrome - variation in lens changes in the carrier state.
- Published in:
- Acta Ophthalmologica (1755375X), 1991, v. 69, n. 1, p. 102, doi. 10.1111/j.1755-3768.1991.tb02002.x
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- Publication type:
- Article
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1217, doi. 10.1002/ajmg.a.33987
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- Publication type:
- Article
Midwives and information on prenatal testing with focus on Down syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Autism needs to be considered in children with Down Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
More severe intellectual disability found in teenagers compared to younger children with Down syndrome.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genetics of Mental Retardation - An Overview Encompassing Learning Disability and Intellectual Disability.
- Published in:
- 2011
- By:
- Publication type:
- Book Review
Noonan syndrome and related disorders: a matter of dysregulated ras signalling.
- Published in:
- 2009
- By:
- Publication type:
- Book Review
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots – evidence for different genetic origins.
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 4, p. 693, doi. 10.1111/j.1651-2227.2008.01170.x
- By:
- Publication type:
- Article
Preventive health care for children with genetic conditions – providing primary care medical home, 2nd edition.
- Published in:
- 2008
- By:
- Publication type:
- Book Review
Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome.
- Published in:
- Acta Paediatrica, 2006, v. 95, n. 12, p. 1657, doi. 10.1080/08035250600771466
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- Publication type:
- Article
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 10, p. 7113, doi. 10.1007/s12035-019-1585-3
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- Publication type:
- Article
A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x-linked charcot-marie-tooth disease.
- Published in:
- Human Mutation, 1998, v. 11, p. S8, doi. 10.1002/humu.1380110104
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- Publication type:
- Article
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-34413-3
- By:
- Publication type:
- Article
A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-34413-3
- By:
- Publication type:
- Article
An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study.
- Published in:
- Neuropsychiatric Disease & Treatment, 2019, v. 15, p. 2049, doi. 10.2147/NDT.S205721
- By:
- Publication type:
- Article
Linkage analysis in properdin deficiency families: refined location in proximal Xp.
- Published in:
- Clinical Genetics, 1992, v. 42, n. 1, p. 8, doi. 10.1111/j.1399-0004.1992.tb03126.x
- By:
- Publication type:
- Article
Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 314, doi. 10.1111/j.1399-0004.1991.tb03035.x
- By:
- Publication type:
- Article
Prader-Willi syndrome in a child with a balanced (X;15) de novo translocation.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 3, p. 245, doi. 10.1111/j.1399-0004.1984.tb04379.x
- By:
- Publication type:
- Article
A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 1, p. 16, doi. 10.1111/j.1399-0004.1982.tb01404.x
- By:
- Publication type:
- Article
A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p.
- Published in:
- Clinical Genetics, 1981, v. 20, n. 4, p. 289, doi. 10.1111/j.1399-0004.1981.tb01035.x
- By:
- Publication type:
- Article