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List of works by Tania Attié-Bitach

12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.

scientific article published on 15 August 2013

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia

scientific article published on 06 February 2009

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test

scientific article published on 7 January 2016

A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.

scientific article published on 24 February 2016

A clinical and histopathological study of malformations observed in fetuses infected by the Zika virus

scientific article published on 05 October 2018

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

scientific article

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

scientific article

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

article

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome

scientific article published in April 2015

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

scientific article published on February 2008

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects.

scientific article

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

scientific article published on 29 July 2016

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

scientific article published on 01 March 2019

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

scientific article

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

scientific article published on 28 September 2012

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

scientific article published on 7 April 2016

BBS10 mutations are common in 'Meckel'-type cystic kidneys

scientific article published on 30 August 2010

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

scientific article published on 01 August 2018

C5orf42 is the major gene responsible for OFD syndrome type VI.

scientific article published on November 2013

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

scientific article

Cerebral dysgenesis does not exclude OFD I syndrome

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

article published in 2018

Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

scientific article

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

scientific article published on 9 February 2012

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

article

Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases

scientific article published on 31 December 2018

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

scientific article published on 01 December 2006

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

scientific article (publication date: 20 August 2013)

De la fœtopathologie au gène

article

De novo trisomy 20p of paternal origin

scientific article published in May 2007

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

scientific article published on 22 October 2007

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

scientific article published on 21 March 2013

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome.

scientific article published in October 2011

Disruption of a ciliary B9 protein complex causes Meckel syndrome

scientific journal article

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

scientific article published on December 2012

EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

scientific article published on 25 April 2020

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development

scientific article

Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome

scientific article published in July 2000

Expression of the SMADIP1 gene during early human development

scientific article

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

scientific article (publication date: August 2007)

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations

scientific article published on 31 July 2017

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations

scientific article published on 11 January 2019

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

scientific article published on 13 March 2017

First fetal case of the 8q24.3 contiguous genes syndrome

article

Gene expression in pharyngeal arch 1 during human embryonic development

scientific article published on 9 February 2005

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

scientific article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

scientific article published on 27 April 2007

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

scientific article published in December 2009

Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome

scientific article published in June 2009

High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts

scientific article

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

scientific article

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

scientific article

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

scientific article published on 14 September 2020

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

scientific article

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

scientific article

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

scientific article published on 28 November 2017

Inappropriate p53 activation during development induces features of CHARGE syndrome ⬇️

scientific article

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Long-Chain Fatty Acid Oxidation during Early Human Development

article

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis

scientific article published on 27 April 2018

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

scientific article published in August 2021

Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs

Maladies héréditaires du métabolisme : signes anténatals et diagnostic biologique

scientific article published on 09 August 2012

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

scientific article published on 11 April 2007

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

scientific article

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

scientific article published on 2 February 2017

Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy

scientific article published in January 2000

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

scientific article published on April 2004

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

scientific article published on 14 February 2019

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

scientific article

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

scientific article published on 13 July 2015

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

scientific article published on 01 November 2018

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

New ocular phenotype associated with a mutation in the PAX2 gene

article

Next-Generation Sequencing in a Series of 80 Fetuses with Complex Cardiac Malformations and/or Heterotaxy

scientific article published on 01 November 2020

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

scientific article

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

scientific article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.

scientific article published in May 2018

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

article

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

scientific article published on October 4, 2012

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

scientific article published on 14 December 2019

PAX2 mutations in oligomeganephronia.

scientific article

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

PAX2mutations in fetal renal hypodysplasia

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

scientific article

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

scientific article published on 27 November 2017

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

scientific article

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

scientific article published in May 2009

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome

scientific article published on 22 December 2011

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

scientific article published on 19 January 2011

Pitchfork regulates primary cilia disassembly and left-right asymmetry

scientific article

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

scientific article

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

scientific article

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

scientific article

Posterior fossa imaging in 158 children with ataxia.

scientific article published on 7 April 2010

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

scientific article published on 25 April 2006

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

scientific article published in November 2003

Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature

scientific article published on 13 February 2020

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

scientific article published on 13 April 2011

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

scientific article published on 25 July 2009

SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects

scientific article published on 09 August 2019

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.

scientific article

Segregation at three loci explains familial and population risk in Hirschsprung disease

scientific article published on 15 April 2002

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

scientific article published on 28 March 2013

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

scientific article published on 22 June 2010

Significant contribution of intragenic deletions to ARID1B mutation spectrum

scientific article published on 20 May 2019

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

scientific article

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

scientific article published on 30 March 2020

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

scientific article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

scientific article

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

scientific article

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

scientific article

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

scientific article

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

scientific article

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients

scientific article published in 2024

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

scientific article

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

scientific article

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

scientific article published on October 2017

Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1

scientific article published on 08 January 2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

scientific article published on 26 February 2018

[Molecular diagnosis for the most frequent aneuploïdies with quantitative fluorescent PCR]

scientific article

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