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

Molecular psychiatry, 2016-01, Vol.21 (1), p.133-148

2016

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

Journal of medical genetics, 2012-02, Vol.49 (2), p.104-109

2012

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Late effects of early growth hormone treatment in Down syndrome

Acta Paediatrica, 2010-05, Vol.99 (5), p.763-769

2010

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Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

Journal of medical genetics, 2008-08, Vol.45 (8), p.500-506

2008

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Growth charts for Down's syndrome from birth to 18 years of age

Archives of disease in childhood, 2002-08, Vol.87 (2), p.97-103

2002

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Clinical genetics, 2009-12, Vol.76 (6), p.524-534

2009

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An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study

Neuropsychiatric disease and treatment, 2019-01, Vol.15, p.2049-2056

2019

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Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity

Archives of disease in childhood, 1998-09, Vol.79 (3), p.242-245

1998

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Caffeine Intake and the Risk of First-Trimester Spontaneous Abortion

The New England journal of medicine, 2000-12, Vol.343 (25), p.1839-1845

2000

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Increased neonatal thyrotropin in Down syndrome

Acta Paediatrica, 2009-06, Vol.98 (6), p.1010-1013

2009

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Self-Perceived Health in Swedish Parents of Children with Down's Syndrome

Quality of life research, 2000, Vol.9 (4), p.415-422

2000

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Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

Cytogenetic and genome research, 2007-01, Vol.118 (1), p.1-7

2007

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

Acta Paediatrica, 2002-01, Vol.91 (12), p.1344-1349

2002

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Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Journal of medical genetics, 2003-12, Vol.40 (12), p.e133-133

2003

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Mortality in Down's syndrome in relation to congenital malformations

Journal of intellectual disability research, 1999-06, Vol.43 (3), p.234-241

1999

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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.333-341

2024

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Normal growth hormone secretion in overweight young adults with Down syndrome

Growth hormone & IGF research, 2010-04, Vol.20 (2), p.174-178

2010

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Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

Molecular syndromology, 2010-01, Vol.1 (2), p.75-81

2010

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Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

American journal of human genetics, 1997-08, Vol.61 (2), p.317-328

1997

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A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

The journal of clinical endocrinology and metabolism, 2004-01, Vol.89 (1), p.227-231

2004

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Chromosomal anomalies in first-trimester miscarriages

Acta obstetricia et gynecologica Scandinavica, 2005-11, Vol.84 (11), p.1103-1107

2005

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P104 Array CGH in patients with arthrogryposis multiplex congenita, mental retardation and dysmorphic signs

European journal of paediatric neurology, 2009, Vol.13, p.S53-S53

2009

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Utilization of medical care among children with Down's syndrome

Journal of intellectual disability research, 2002-05, Vol.46 (4), p.310-317

2002

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The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

Journal of medical genetics, 1997-05, Vol.34 (5), p.360-365

1997

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Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

European journal of human genetics : EJHG, 1999-07, Vol.7 (5), p.541-548

1999

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

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

Late effects of early growth hormone treatment in Down syndrome

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

Growth charts for Down's syndrome from birth to 18 years of age

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study

Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity

Caffeine Intake and the Risk of First-Trimester Spontaneous Abortion

Increased neonatal thyrotropin in Down syndrome

Self-Perceived Health in Swedish Parents of Children with Down's Syndrome

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

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

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

Mortality in Down's syndrome in relation to congenital malformations

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Normal growth hormone secretion in overweight young adults with Down syndrome

Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1)

Chromosomal anomalies in first-trimester miscarriages

P104 Array CGH in patients with arthrogryposis multiplex congenita, mental retardation and dysmorphic signs

Utilization of medical care among children with Down's syndrome

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

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