Lista de obras -

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

artículo científico publicado en 2013

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

scientific article published on 31 December 2019

A cytogenetic study in a large population of intellectually disabled Indonesians

artículo científico publicado en 2011

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

artículo científico publicado en 2010

Arts syndrome is caused by loss-of-function mutations in PRPS1

artículo científico publicado en 2007

Assessment of left ventricular geometrical patterns and function among hypertensive patients at a tertiary hospital, Northern Tanzania

artículo científico publicado en 2012

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

artículo científico publicado en 2011

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

artículo científico publicado en 2011

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

artículo científico publicado en 2005

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

artículo científico publicado en 2010

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

artículo científico publicado en 2003

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

scholarly article published in Nature Genetics

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome

artículo científico publicado en 2009

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

article

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

artículo científico publicado en 2017

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

artículo científico publicado en 2003

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

artículo científico publicado en 2006

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

artículo científico publicado en 2006

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

artículo científico publicado en 2014

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient

artículo científico publicado en 2012

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

artículo científico publicado en 2012

Mutations in MED12 cause X-linked Ohdo syndrome

artículo científico publicado en 2013

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

artículo científico publicado en 2004

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

artículo científico publicado en 2006

Mutations in the human TBX4 gene cause small patella syndrome

artículo científico publicado en 2004

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

artículo científico publicado en 2003

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

artículo científico publicado en 2009

Neurologic aspects of MECP2 gene duplication in male patients

artículo científico publicado en 2009

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Novel mutations in three patients with LGMD2C with phenotypic differences

artículo científico publicado en 2004

P63 gene mutations and human developmental syndromes.

artículo científico publicado en 2002

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

artículo científico publicado en 2017

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

artículo científico publicado en 2013

The clinical spectrum of complete FBN1 allele deletions

artículo científico publicado en 2010

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

artículo científico publicado en 2010

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

artículo científico publicado en 2002

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

artículo científico publicado en 2006

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

artículo científico publicado en 2004

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

article

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

artículo científico publicado en 2009

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients

artículo científico publicado en 2013

Lista de obras de

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

A cytogenetic study in a large population of intellectually disabled Indonesians

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

Arts syndrome is caused by loss-of-function mutations in PRPS1

Assessment of left ventricular geometrical patterns and function among hypertensive patients at a tertiary hospital, Northern Tanzania

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Mutations in MED12 cause X-linked Ohdo syndrome

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Mutations in the human TBX4 gene cause small patella syndrome

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Neurologic aspects of MECP2 gene duplication in male patients

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Novel mutations in three patients with LGMD2C with phenotypic differences

P63 gene mutations and human developmental syndromes.

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

The clinical spectrum of complete FBN1 allele deletions

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients