Lista de obras -

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

scientific article published on 23 June 2019

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

scientific article published on 14 May 2020

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

artículo científico publicado en 2017

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

artículo científico publicado en 2018

Bardet-Biedl syndrome and related disorders in Japan

artículo científico publicado en 2020

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern

scientific article published on 09 September 2020

Clinical and molecular spectrum of CHOPS syndrome

artículo científico publicado en 2019

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

artículo científico publicado en 2018

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

artículo científico publicado en 2017

Congenital arhinia: molecular-genetic analysis of five patients

artículo científico publicado en 2007

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Cover Image, Volume 176A, Number 3, March 2018

artículo científico publicado en 2018

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

artículo científico publicado en 2017

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

artículo científico publicado en 2019

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

artículo científico publicado en 2017

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

artículo científico publicado en 2017

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome

artículo científico publicado en 2018

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

artículo científico publicado en 2003

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

scientific article published on 04 February 2022

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

artículo científico publicado en 2018

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation

scientific article published on 02 April 2019

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

artículo científico publicado en 2017

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation

artículo científico publicado en 2019

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

artículo científico publicado en 2009

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities

scientific article published on 15 November 2018

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

artículo científico publicado en 2008

Novel CLTC variants cause new brain and kidney phenotypes

artículo científico publicado en 2021

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

artículo científico publicado en 2020

Novel MCA/ID syndrome with ASH1L mutation

artículo científico publicado en 2017

Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation

scientific article published on 21 February 2019

Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

artículo científico publicado en 2018

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

artículo científico publicado en 2017

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype

scientific article published on 08 March 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

artículo científico publicado en 2017

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

artículo científico publicado en 2018

Lista de obras de

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Bardet-Biedl syndrome and related disorders in Japan

Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern

Clinical and molecular spectrum of CHOPS syndrome

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation.

Congenital arhinia: molecular-genetic analysis of five patients

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Cover Image, Volume 176A, Number 3, March 2018

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome

Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.

Intellectual disability and dysmorphic features in male siblings arising from a novel TAF1 mutation

MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities

No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

Novel CLTC variants cause new brain and kidney phenotypes

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Novel MCA/ID syndrome with ASH1L mutation

Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation

Primary microcephaly caused by novel compound heterozygous mutations in ASPM.

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.