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List of works by Jeanne Amiel

A CGH study of 27 patients with CHARGE association

scientific article published on 01 February 2002

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome

A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome.

scientific article published in August 2012

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

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 human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

scientific article

A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons.

scientific article

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

scientific article published in May 2001

A novel case of t(X;1)(p11.2;p34) in a renal cell carcinoma with TFE3 rearrangement and favorable outcome in a 57-year-old patient

scientific article published on 01 July 2010

A review of craniofacial disorders caused by spliceosomal defects

scientific article published on 11 April 2015

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

scientific article published on 3 September 2014

Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.

scientific article published on October 2001

Adams-Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

article published in 2005

An unusual cause of fetal hypomobility:congenital central hypoventilation syndrome associated with hirschsprung disease

scientific article published on 18 October 2013

Angiomatous and cerulodermic macules: early cutaneous signs of neurofibromatosis type I

scientific article published in September 1998

Anomalies de développement et prédisposition aux tumeurs de l’enfant

scientific article published on 03 July 2010

Antenatal manifestations of mitochondrial respiratory chain deficiency

scientific article

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

scientific article published on 13 July 2006

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature

scientific article published in August 2004

Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome

scientific article published on 29 December 2012

Autonomic function in children with congenital central hypoventilation syndrome and their families

scientific article

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

scientific article

Bases génétiques et moléculaires des neurocristopathies

scientific article published on 16 April 2007

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum ofMED12mutations

article

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

scientific article published on 19 July 2005

CHARGE syndrome: report of 47 cases and review

scientific article

Cas radiologique du mois

article

Cholinergic switch associated with morphological differentiation in neuroblastoma

scientific article published in December 2009

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

scientific article

Cis-ruptions of highly conserved non-coding genomic elements distant from the SOX9 gene in the Pierre Robin sequence

scientific article published on 11 August 2011

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

scientific article published on 2 April 2015

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

scientific article published on 25 March 2013

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

scientific article published on 26 March 2014

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

scientific article

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism ⬇️

scientific article

Congenital heart defects in patients with deletions upstream of SOX9.

scientific article published on 18 October 2013

Congenital malformations in pediatric tumors

scientific article published in January 1998

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

scientific article

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

scientific article published on 7 August 2012

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

article

Contiguous mutation syndrome in the era of high-throughput sequencing

scientific article published on 18 March 2015

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model

scientific article

Contributions of PHOX2B in the pathogenesis of Hirschsprung disease

scientific article

Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism

scientific article published on 01 April 2007

D-2-hydroxyglutaric aciduria: further clinical delineation

scientific article

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

scientific article published on 25 March 2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

scientific article

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

Delineation of Late Onset Hypoventilation Associated with Hypothalamic Dysfunction Syndrome

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

scientific article published on 01 September 2000

Devenir intellectuel des enfants atteints d’une microdélétion 22q11.2 : suivi longitudinal monocentrique de 44 patients

scientific article published on 01 May 2002

Diagnostic prénatal de la polykystose rénale récessive autosomique

scientific article published on 01 September 2000

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

scientific article

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

scientific article

Disruption of long‐distance highly conserved noncoding elements in neurocristopathies ⬇️

scientific article published on December 1, 2010

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

scientific article

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

scientific article published on 01 August 1995

Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome?

scientific article published in February 2002

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

Ebstein anomaly associated with rearrangements of chromosomal region 11q

scientific article published on 2 November 1998

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome.

scientific article published in May 2004

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

scientific article published on July 1997

Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

scientific article

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

scholarly article

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

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

Expression of theRET proto-oncogene in human Embryos

scientific article published on 28 December 1998

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease

article

Facial appearance in persistent hyperinsulinemic hypoglycemia

scientific article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

scientific article

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

scientific article (publication date: August 2007)

Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up.

scientific article published on January 1995

Features of DiGeorge syndrome and CHARGE association in five patients ⬇️

scientific article published on December 1, 1997

Finger creases lend a hand in Kabuki syndrome.

scientific article

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy

article

Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

scientific article published on December 2003

From monogenic to polygenic: model of Hirschsprung disease

scientific article published in November 1998

Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish

scientific article published on June 2015

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling

scientific article

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability

scientific article

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

article

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

scientific article

Genetic factors in isolated and syndromic esophageal atresia

scientific article published on May 2011

Genetics and early disturbances of breathing control

scientific article

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

scientific article published in August 2004

Germline gain-of-function mutations of ALK disrupt central nervous system development

scientific article published in March 2011

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

scientific article

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

scientific article

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

article

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

scientific article published on 12 January 2013

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

scientific article (publication date: March 1996)

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

scientific article (publication date: March 2009)

Hirschsprung disease, associated syndromes, and genetics: a review ⬇️

scientific article published on November 1, 2001

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease

scientific article published in March 2005

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

scientific article published in May 2008

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

scientific article

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

scientific article

Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study

scientific article published in December 2001

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

scientific article

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

scientific article published on May 2009

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

scientific article published in June 2012

Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature.

scientific article published on August 2007

Lamin a truncation in Hutchinson-Gilford progeria.

scientific article

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

scientific article published on 30 September 2015

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

scientific article

Late-onset central hypoventilation presenting as extubation failure.

scientific article published in April 2010

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

scientific article published on 4 May 2014

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

scientific journal article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

scientific article

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

scientific article published on 31 August 2007

MicroRNAs in genetic disease: rethinking the dosage

scientific article published on August 2012

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

scientific article published on December 2016

Molecular bases of human neurocristopathies.

scientific article

Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction

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

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

scientific article

Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid

scientific article

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

scientific article published on 24 March 2014

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)

scientific article published on January 1, 1998

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

scientific article (publication date: April 2009)

Mutations in KCTD1 cause scalp-ear-nipple syndrome

scientific article

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

scientific article

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

scientific article published in June 2016

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

scientific article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

scientific article published on 6 March 2017

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

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

article

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

scientific article published on 27 January 2006

Mutations of the RET-GDNF signaling pathway in Ondine's curse

scientific article

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

scientific article

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

scientific article published on 18 July 2012

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

scientific article published on 12 September 2013

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

scientific article published in January 2011

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

scientific article

PAX2 mutations in oligomeganephronia.

scientific article

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

PHOX2B gene mutation in a patient with late-onset central hypoventilation

scientific article published in October 2004

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

scientific article

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome

scientific article published on 13 December 2007

PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.

scientific article published on 21 March 2009

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

scientific article published on 27 June 2013

PMX2B, a new candidate gene for Hirschsprung's disease

scientific article published in September 2003

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

scientific article

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature

scientific article published on 18 April 2013

Pierre Robin Sequence: A series of 117 consecutive cases

Polyalanine expansions in human

scientific article published in October 2004

Polyalanine expansions might not result from unequal crossing-over

article by Delphine Trochet et al published 2007 in Human Mutation

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis

scientific article published on 24 August 2007

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

scientific article published on 23 November 2010

Prenatal diagnosis of Milroy disease

scientific article published on 24 October 2011

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis

scientific article published in February 2002

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology

scientific article published in January 2001

Proceedings of the fourth international conference on central hypoventilation

scientific article

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

scientific article published on 13 April 2011

RET proto-oncogene: role in kidney development and molecular pathology.

scientific article published on January 1998

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

scientific article published in May 1999

Renal coloboma syndrome

scientific article

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

scientific article published on 23 March 2016

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

article

Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.

scientific article

Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement

scientific article published on 01 August 1999

Septo-optic dysplasia and digital anomalies: another observation

scientific article

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

scientific article published on October 2008

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

scientific article published on July 2008

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

scientific article

Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay

scientific article published in April 2009

Spotlight on the congenital central hypoventilation syndrome (Ondine's curse) and its management

scientific article

Successful pre-implantation genetic diagnosis for Hirschsprung disease.

scientific article

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

scientific article published on 18 March 2013

TP63 gene mutation in ADULT syndrome

article

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome

scientific article published in April 2017

Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome

scientific article published in 2001

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype

scientific article

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

Towards a suggestive facial dysmorphism in adenylosuccinate lyase deficiency?

scientific article published in June 2002

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Tricuspid atresia and conotruncal malformations in five families

scientific article published in April 1999

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

scientific article published in December 2001

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family

Un gène codant une métalloprotéase impliqué dans l’hétérotaxie

article

Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies

scientific article

Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development

scientific article published in August 2000

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

scientific article

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

scientific article published on 5 March 2013

[Genetics of Hirschsprung disease]

scientific article published on 01 January 1996

[Sulfite oxidase deficiency presenting as Leigh syndrome]

scientific article published on 01 November 1994

miRNA, development and disease

scientific article published on January 2012

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