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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

Clinical genetics, 2018-11, Vol.94 (5), p.450-456

2018

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Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease

Clinical genetics, 2017-01, Vol.91 (1), p.30-37

2017

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Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-09, Vol.147B (6), p.799-806

2008

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Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

American journal of medical genetics. Part A, 2007-04, Vol.143A (8), p.866-870

2007

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Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration

Neurology, 2010-06, Vol.74 (22), p.1835-1835

2010

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The mutational spectrum in Waardenburg syndrome

Human molecular genetics, 1995-11, Vol.4 (11), p.2131-2137

1995

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Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9

Clinical genetics, 2009-02, Vol.75 (2), p.199-202

2009

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Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.379-383

2005

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Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features

American journal of medical genetics. Part A, 2008-09, Vol.146A (18), p.2361-2369

2008

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E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS: EP.104Spinal muscular atrophy overlapping syndrome – "double trouble" or a chance for better outcome?

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S198-S198

2019

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E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S198

2019

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Speech delay in a girl with deletion of the FUT9 gene

European journal of paediatric neurology, 2008, Vol.12, p.S47-S48

2008

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Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH

Journal of medical genetics, 2000-02, Vol.37 (2), p.114-120

2000

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Genetics in medicine, 2011-05, Vol.13 (5), p.447-452

2011

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Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies

Journal of medical genetics, 2002-09, Vol.39 (9), p.e53-53

2002

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Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

European journal of paediatric neurology, 2008, Vol.12, p.S54-S55

2008

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Duplication of the MECP2 genomic region as a cause of mental retardation infive males – application of novel diagnostic techniques

European journal of paediatric neurology, 2008, Vol.12, p.S46-S46

2008

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.74-74, Article 74

2014

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a similar to 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

Human genetics, 2005-11, Vol.118 (2), p.267-275

2005

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Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16,1, including GPR63 and FUT9. Authors' reply

Clinical genetics, 2009, Vol.75 (2), p.199-202

2009

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GAPO syndrome (Radiographic clues to early diagnosis)

Radiologia medica, 1997-03, Vol.93 (3), p.289-291

1997

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Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation

Medical science monitor, 2004-04, Vol.10 (4), p.CR143-CR151

2004

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Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

Journal of applied genetics, 2007-01, Vol.48 (2), p.167-175

2007

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Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome

Folia neuropathologica, 2008, Vol.46 (3), p.232-237

2008

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The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease

Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections

Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

Pontine tegmental cap dysplasia: a hindbrain malformation caused by defective neuronal migration

The mutational spectrum in Waardenburg syndrome

Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16.1, including GPR63 and FUT9

Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene

Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features

E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS: EP.104Spinal muscular atrophy overlapping syndrome – "double trouble" or a chance for better outcome?

E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS

Speech delay in a girl with deletion of the FUT9 gene

Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Subtelomeric rearrangements detected by FISH in three of 33 families with idiopathic mental retardation and minor physical anomalies

Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay

Duplication of the MECP2 genomic region as a cause of mental retardation infive males – application of novel diagnostic techniques

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a similar to 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

Autistic features with speech delay in a girl with an ∼1.5-Mb deletion in 6q16,1, including GPR63 and FUT9. Authors' reply

GAPO syndrome (Radiographic clues to early diagnosis)

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome

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