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Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer

American journal of human genetics, 2004-05, Vol.74 (5), p.1043-1050

2004

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Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Clinical endocrinology (Oxford), 2010-04, Vol.72 (4), p.481-488

2010

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A 4-bp Deletion in the Birt-Hogg-Dubé Gene ( FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax

American journal of human genetics, 2005-03, Vol.76 (3), p.522-527

2005

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Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Neurogenetics, 2013-05, Vol.14 (2), p.123-132

2013

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18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

American journal of medical genetics. Part A, 2006-02, Vol.140A (4), p.331-339

2006

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Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis

American journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.251-262

2005

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Low Insulin‐Like Growth Factor (IGF‐1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration

Epilepsia (Copenhagen), 1999-11, Vol.40 (11), p.1642-1648

1999

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Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Neurology, 2015-07, Vol.85 (4), p.306-315

2015

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Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Human genetics, 2002-10, Vol.111 (4-5), p.421-427

2002

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A new distal myopathy with mutation in anoctamin 5

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.791-795

2010

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X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.49-49, Article 49

2014

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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1267-1279

2017

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The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Nature genetics, 2005-12, Vol.37 (12), p.1309-1311

2005

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Variants in CUL4B are Associated with Cerebral Malformations

Human mutation, 2015-01, Vol.36 (1), p.106-117

2015

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Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

European journal of human genetics : EJHG, 1999-04, Vol.7 (3), p.368-376

1999

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Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Neurology. Genetics, 2016-02, Vol.2 (1), p.e46-e46

2016

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A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene

American journal of medical genetics. Part A, 2011-04, Vol.155 (4), p.875-879

2011

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A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Nature medicine, 1998-04, Vol.4 (4), p.452-455

1998

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Variant Alzheimer Disease With Spastic Paraparesis: Neuropathological Phenotype

Journal of neuropathology and experimental neurology, 2001-05, Vol.60 (5), p.483-492

2001

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Cerebellar hypoplasia and Cohen syndrome: A confirmed association

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2390-2393

2010

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A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region

Human molecular genetics, 1997-02, Vol.6 (2), p.317-324

1997

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Diagnostic criteria and genetics of the PEHO syndrome

Journal of medical genetics, 1993-11, Vol.30 (11), p.932-936

Somer, M

1993

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Myopathy is a prominent feature in Marinesco-Sjögren syndrome : A muscle computed tomography study

Journal of neurology, 2006-03, Vol.253 (3), p.301-306

2006

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Dominant optic atrophy: correlation between clinical and molecular genetic studies

Acta ophthalmologica Scandinavica, 2005-06, Vol.83 (3), p.337-346

2005

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Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer

Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

A 4-bp Deletion in the Birt-Hogg-Dubé Gene ( FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

Shprintzen-Goldberg syndrome: Fourteen new patients and a clinical analysis

Low Insulin‐Like Growth Factor (IGF‐1) in the Cerebrospinal Fluid of Children with Progressive Encephalopathy, Hypsarrhythmia, and Optic Atrophy (PEHO) Syndrome and Cerebellar Degeneration

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

A new distal myopathy with mutation in anoctamin 5

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Variants in CUL4B are Associated with Cerebral Malformations

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Variant Alzheimer Disease With Spastic Paraparesis: Neuropathological Phenotype

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

A Transcript Map of the Newly Defined 165 kb Wolf-Hirschhorn Syndrome Critical Region

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-β concentrations

Diagnostic criteria and genetics of the PEHO syndrome

Myopathy is a prominent feature in Marinesco-Sjögren syndrome : A muscle computed tomography study

Dominant optic atrophy: correlation between clinical and molecular genetic studies

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