P. Strømme

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Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway.

P. Magnus, P. Surén, P. Strømme, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

I. Scheffer, J. Gécz, M. Mangelsdorf, 2002, Brain and Development.

Mental retardation in Norway: prevalence and sub‐classification in a cohort of 30 037 children born between 1980 and 1985

P. Strømme, K. Valvatne, 1998, Acta paediatrica.

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome?

E. Jellum, P. Strømme, O. Stokke, 1995, Clinical genetics.

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

D. Misceo, K. Ørstavik, T. Iqbal, 2016, Neuromuscular Disorders.

Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.

G. Gilfillan, H. Stenmark, C. Raiborg, 2009, Experimental cell research.

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway

S. Hope, P. Strømme, C. H. Johannessen, 2016, European journal of neurology.

Intrauterine growth restriction – a population‐based study of the association with academic performance and psychiatric health

E. Bjertness, L. Lien, P. Strømme, 2014, Acta paediatrica.

[The carbohydrate deficient glycoprotein syndrome].

J. Mæhlen, A. Torvik, P. Strømme, 1991, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Clinical Presentation and Natural Course of the Carbohydrate‐deficient Glycoprotein Syndrome

J. Jaeken, P. Strømme, B. Hagberg, 1991 .

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

A. Vanderver, R. Schiffmann, C. Catsman-Berrevoets, 2014, Neurology.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

E. Bertini, R. Hennekam, H. Kayserili, 2007, American journal of human genetics.

Cardiac surgery in a girl with trisomy 13

P. Strømme, E. Thaulow, O. Geiran, 2000, Cardiology in the Young.

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

Human TGF-β1 deficiency causes severe inflammatory bowel disease and neurodevelopmental delay

D. Misceo, C. Klein, I. Borggraefe, 2018 .

ARX and other single genes in X-linked mental retardation: revisiting a population-based study

P. Strømme, 2015 .

ARX an dothe rsingl egene si nX-linked mental retardation: revisiting a population-based study

P. Strømme, 2005 .

Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX

A. Dahl, P. Strømme, S. Bakke, 2003, Journal of neurology, neurosurgery, and psychiatry.

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences

D. Misceo, C. Venditti, R. Wevers, 2022, Brain : a journal of neurology.

Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study

P. Magnus, P. Strømme, T. Hallböök, 2019, Developmental medicine and child neurology.

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

A. Torvik, P. Strømme, O. Skjeldal, 1997, Journal of medical genetics.

TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.

D. Misceo, C. Gilissen, P. Strømme, 2019, Pediatric neurology.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders

P. Strømme, O. Skjeldal, G. Smit, 1991, Journal of Inherited Metabolic Disease.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

[Mental retardation].

P. Strømme, 2008, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

Prevalence of psychiatric diagnoses in children with mental retardation: data from a population‐based study

P. Strømme, T. Diseth, 2000, Developmental medicine and child neurology.

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic hypogonadism

D. Misceo, P. Strømme, E. Frengen, 2011, American journal of medical genetics. Part A.

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

D. Misceo, S. Ferdinandusse, H. Waterham, 2015, Human molecular genetics.

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

D. Misceo, C. Klein, S. Snapper, 2018, Nature Genetics.

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

J. Gécz, M. Stratton, P. Futreal, 2008, American journal of human genetics.

Aetiology in severe and mild mental retardation: a population-based study of Norwegian children.

G. Hagberg, P. Strømme, 2000 .

Aetiology in severe and mild mental retardation: a population‐based study of Norwegian children

G. Hagberg, P. Strømme, 2000, Developmental medicine and child neurology.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

J. Rosenfeld, B. V. van Bon, A. V. Vulto-van Silfhout, 2017, American journal of human genetics.

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

I. Scheffer, M. Shaw, J. Gécz, 2002, Nature Genetics.

Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a > 5 to 15‐breakpoint CCR

T. Liehr, G. Houge, J. Schoumans, 2003, American journal of medical genetics. Part A.

Prevalence Estimation of Williams Syndrome

P. Strømme, Petter Strømme, Per G. Bjømstad, 2002, Journal of child neurology.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX

I. Scheffer, J. Gécz, S. Berkovic, 2002, Neurology.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly

P. Strømme, Eilif Dahl, T. Flage, 1993, Clinical genetics.

Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism

R. Hennekam, P. Strømme, M. Haakonsen, 2005, Scandinavian journal of plastic and reconstructive surgery and hand surgery.

Prevalence of psychiatric diagnoses in children with mental retardation: data from a population-based study

P. Strømme, T. Diseth, 2000 .

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

D. Misceo, A. Stray-Pedersen, P. Strømme, 2013, Orphanet Journal of Rare Diseases.

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B

D. Misceo, P. Strømme, E. Frengen, 2015, American journal of medical genetics. Part A.

Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.

P. Strømme, S. Spetalen, M. Vanier, 2008, Medical science monitor : international medical journal of experimental and clinical research.

Bilateral arachnoid cysts of the temporal fossa in four children with glutaric aciduria type I.

J. Hald, P. Strømme, O. Skjeldal, 1991, AJNR. American journal of neuroradiology.

Young girl with psychosis, cognitive failure and seizures.

J. Dalmau, P. Strømme, I. Slettedal, 2012, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.

SCA27 caused by a chromosome translocation: further delineation of the phenotype

D. Misceo, R. Roberto, P. Strømme, 2009, neurogenetics.

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

D. Misceo, P. Strømme, E. Frengen, 2016, Genes.

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Colin A. Johnson, S. Gabriel, T. Ideker, 2015, eLife.

Correlations between socioeconomic status, IQ and aetiology in mental retardation: a population-based study of Norwegian children

P. Magnus, P. Strømme, 2000, Social Psychiatry and Psychiatric Epidemiology.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

D. Misceo, R. Lyle, S. Nakken, 2011, European Journal of Human Genetics.

Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene

E. Ormerod, G. Houge, T. Prescott, 2007, American journal of medical genetics. Part A.

Microphthalmia and brain atrophy: A novel neurodegenerative disease

A. Server, M. S. van der Knaap, P. Strømme, 2006, Annals of neurology.

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

D. Misceo, H. Omran, N. Katsanis, 2020, Human mutation.

CUGC for Stromme syndrome and CENPF-related disorders

P. Strømme, I. Filges, 2020, European Journal of Human Genetics.

CUGC for Stromme syndrome and CENPF-related disorders

P. Strømme, I. Filges, 2019, European Journal of Human Genetics.

Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF

M. Schubach, S. Hoeller, S. Schulzke, 2016, Human Mutation.

Developmental aspects in apple peel intestinal atresia — ocular anomalies — microcephaly syndrome

P. Strømme, W. Andersen, 1997, Clinical genetics.

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction

S. Walkley, R. Sillitoe, A. Klungland, 2011, Brain : a journal of neurology.

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome

L. Kleppa, A. Klungland, P. Strømme, 2007, Neuroscience.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

P. Strømme, F. Sandboe, 2009, Acta ophthalmologica Scandinavica.

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

D. Misceo, R. Rodenburg, P. Strømme, 2016, European journal of medical genetics.

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

D. Misceo, A. Stray-Pedersen, P. Strømme, 2016, Genes.

Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?

P. Strømme, M. Rasmussen, Petter Strømme, 1998, Clinical dysmorphology.

Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23

J. Fryns, H. Berghe, P. Strømme, 1993, Clinical genetics.

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

F. Hanefeld, P. Noori, P. Strømme, 1998, Human Genetics.

X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11

S. Claes, J. Fryns, K. Sundet, 1999, Journal of medical genetics.

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.

D. Misceo, P. Strømme, E. Frengen, 2010, European journal of medical genetics.

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

D. Misceo, C. Gilissen, A. Server, 2020, BMC Medical Genetics.

Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.

D. Misceo, H. Zetterberg, T. Visser, 2018, Thyroid : official journal of the American Thyroid Association.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG.

J. Aicardi, A. Server, T. Prescott, 2004, Clinical dysmorphology.

Natural history of Christianson syndrome

M. Stratton, P. Tarpey, R. Stevenson, 2010, American journal of medical genetics. Part A.

Learning disabilities and language pathology in patients with galactosemia.

P. Strømme, T. Hansen, Randi Korsvig Rasmussen, 1996, Logopedics, phoniatrics, vocology.

Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage.

K. Skullerud, J. Månsson, T. Hovig, 1997, Pediatric neurology.

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406.

F. Hanefeld, J. Jaeken, F. Skovby, 1994, Human molecular genetics.

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

E. Jellum, B. Andresen, P. Strømme, 2007, Journal of medical case reports.

Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population‐based study

P. Magnus, P. Strømme, T. Rootwelt, 2007, Acta paediatrica.

Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study

P. Magnus, P. Strømme, O. Kanavin, 2007, BMC pediatrics.

A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis

D. Misceo, T. Nyman, B. Dalhus, 2023, Brain : a journal of neurology.

Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children

P. Strømme, W. Andersen, Wenche Helene Andersen, 2001, Logopedics, phoniatrics, vocology.

[Children with neurodegenerative disease].

P. Strømme, Ø. Kanavin, 2010, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.