As of 2024, our group will join the MoPED team, co-directed by Anne Barlier and Heather Etchevers.

Our group studies how certain kinds of birth defects occur. Those affecting derivatives of the stem cell population known as the neural crest are called congenital neurocristopathies. The palate, eyes and/or heart are frequently affected, but dozens of rarer diseases present also symptoms in the skin, gut or the nervous system. While the genetic bases of many specific neurocristopathies over the last decade have been found, most remain without molecular diagnosis and are relatively poorly defined as clinical entities due to their diverse presentations and rarity.

We study a subset of malformation syndromes due to mutations also found in many adult cancers. Such mutations lead to constant activation of normally temperorarily active enzymes in only some cell types and can be lethal, depending on when they occur. The result in survivors is inappropriate growth factor signaling, leading to effects on cell identities and tissue growth. The resulting organism is a mosaic of affected (mutated) and unaffected (non-mutated) cells. Their interactions during development can lead to diseases that appear very different from, but are mechanistically related to and sometimes predispose to, certain cancers.

Mouse models used by our group phenocopy (reproduce many aspects of) syndromes found in human fetuses or children by directing the same types of mutations to distinct multipotent neural crest derivatives. This can affect not only their progeny in the skin but also in the heart, the peripheral nervous system, the pituitary  or the skull. Characterizing these models and searching for equivalent mutations in relevant patient cohorts should lead to improved diagnoses and new therapeutic approaches for congenital neurocristopathies by repurposing drugs used in targeted chemotherapies.

Genetic causes and modifiers of giant congenital melanocytic nevus

The large and giant congenital melanocytic nevus (CMN) is a visibly conspicuous malformation of the skin, present at birth. It can present as a restricted, stable and benign tumor, or be associated in syndromic form with additional cutaneous, neurological or oncological symptoms.

We study the effects of the molecular signaling pathways shown to be present in CMN in the embryological precursors to pigment cells using multiple systems:

  • Surgical and pathology specimens from large congenital melanocytic nevi (CMN)
  • Induced pluripotent stem cells from human CMN
  • Comparative transcriptomics in primary cultures of mouse cells from neural crest-specific induction of constitutively active BRAF or NRAS mutations
  • Phenotypic characterization of mouse models with different onset or compartments of BRAF or NRAS mutations during prenatal and postnatal development, in order to understand cell non-autonomous effects in CMN syndrome and related disorders

We have successfully recruited a new postdoctoral colleague for 2024, Dr. Daniel Aldea, to carry this project forward as part of the EU-funded MELCAYA consortium.

Intracellular effectors of vascular and craniofacial malformations

Somatic mutations in genes encoding one or more effectors of the RAS-RAF and PI3K signaling pathways, and propagated in the cellular components of blood vessels, cause rare, defiguring and sometimes lethal vascular malformations.

Our transgenic mouse and human cellular models for the expression of such mutations in neural crest lineages implicates these signaling pathways not only in vascular but also craniofacial malformations affecting the skull and palate, in progressive peripheral neuropathies, and in neuroendocrine disorders.

Human Developmental Cell Atlas - renewed through 2024!

This national consortium project launched just before the COVID-19 pandemic with the Zaffran group. It entails mapping the specific transcriptomic signatures of each cell in the developing human body in order to better understand normal and disease-associated physiology during prenatal life. We are participating in technology development with the GBiM platform as well as contributing unprecedently detailed data on the cellular composition of the first-trimester heart as it turns from a primordium into a functional and vital organ. This data contributes to the international Human Cell Atlas effort. Other tissues are also in the pipeline, in local collaborations and with further support from the AFM Téléthon and INSERM.

Wilmerding, A.  et al. 2022

Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

The MAPK/ERK pathway regulates a variety of physiological cellular functions, including cell proliferation and survival. It is abnormally activated in many types of human cancers in response to driver...
Neoplasia - issue: 2 - volume: 24 - pages: 120-132.

Haniffa, M.  et al. 2021

Human Developmental Cell Atlas: milestones achieved and the roadmap ahead

The Human Developmental Cell Atlas (HDCA), as part of the Human Cell Atlas, aims to generate a comprehensive reference map of cells during development. This detailed study of development will be...
- issue: - volume: - pages: in review.

Etchevers, HC.  et al. 2021

Pericyte Ontogeny: The Use of Chimeras to Track a Cell Lineage of Diverse Germ Line Origins.

The goal of lineage tracing is to understand body formation over time by discovering which cells are the progeny of a specific, identified, ancestral progenitor. Subsidiary questions include...
Methods Mol Biol - issue: - volume: 2235 - pages: 61-87.

Fledderus, AC.  et al. 2021

Domains and outcomes of the core outcome set of congenital melanocytic naevi for clinical practice and research (the OCOMEN project): part 2.

BACKGROUND: Congenital melanocytic naevi (CMN) can have a great impact on patients' lives owing to perceived stigmatization, and the risk of melanoma development and neurological complications....
Br J Dermatol - issue: 5 - volume: 185 - pages: 970-977.

de la Fouchardi, .  et al. 2021

Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities.

Cutaneous melanomas are exceptional in children and represent a variety of clinical situations, each with a different prognosis. In congenital nevi, the risk of transformation is correlated with the...
Dermatopathology (Basel) - issue: 3 - volume: 8 - pages: 301-314.

Stefanovic, S.  et al. 2021

Outflow tract formation - Embryonic origins of conotruncal congenital heart disease

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the...
J Cardiovasc Dev Dis. - issue: 8 - volume: 4 - pages: 42.

Calbet-Llopart, N.  et al. 2020

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies...
Pigment Cell Melanoma Res - issue: 5 - volume: 33 - pages: 685-694.

Oei, W.  et al. 2020

Development of an international core domain set for medium, large and giant congenital melanocytic nevi as a first step towards a core outcome set for clinical practice and research

Br J Dermatol - issue: - volume: - pages: bjd.19694.

Macagno, N.  et al. 2020

Cutaneous Melanocytic Tumors With Concomitant NRASQ61R and IDH1R132C Mutations: A Report of 6 Cases

We report a series of 6 melanocytic proliferations harboring both NRAS and IDH1 hotspot mutations. Clinically, there was no specific sex-ratio, ages ranged from 18 to 85 years, and the trunk and limbs...
Am. J. Surg. Pathol. - issue: 10 - volume: 44 - pages: 1398-1405.

Fultang, L.  et al. 2019

Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma

Neuroblastoma is the most common childhood solid tumor, yet the prognosis for high-risk disease remains poor. We demonstrate here that arginase 2 (ARG2) drives neuroblastoma cell proliferation via...
Cancer Res. - issue: 3 - volume: 79 - pages: 611-624.

Jaouadi, H.  et al. 2019

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple...
Genet Res (Camb) - issue: - volume: 101 - pages: e6.

Etchevers, HC.  et al. 2019

The diverse neural crest: from embryology to human pathology

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
Development - issue: - volume: 146(5) - pages: dev.169821.

Zaffran, S.  et al. 2018

Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
Genesis - issue: 6-7 - volume: 56 - pages: e23221.

Macagno, N.  et al. 2018

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules

Am. J. Surg. Pathol. - issue: 5 - volume: 42 - pages: 701-704.

Thomas, AC.  et al. 2018

Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with...
Birth Defects Res - issue: 5 - volume: 110 - pages: 443-455.

Cavodeassi, F.  et al. 2018

The hedgehog pathway and ocular developmental anomalies

Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia,...
Hum. Genet. - issue: - volume: - pages: .

Charlet, J.  et al. 2017

Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma

Neuroblastoma is a childhood cancer in which many children still have poor outcomes, emphasising the need to better understand its pathogenesis. Despite recent genome-wide mutation analyses, many...
Mol. Carcinog. - issue: 4 - volume: 56 - pages: 1290-1301.

Boeva, V.  et al. 2017

Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

Neuroblastoma is a tumor of the peripheral sympathetic nervous system, derived from multipotent neural crest cells (NCCs). To define core regulatory circuitries (CRCs) controlling the gene expression...
Nat. Genet. - issue: 9 - volume: 49 - pages: 1408-1413.

Chassaing, N.  et al. 2016

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are...
Genome Res. - issue: 4 - volume: 26 - pages: 474-485.

Price, HN.  et al. 2015

Practical application of the new classification scheme for congenital melanocytic nevi

A new consensus-based classification of congenital melanocytic nevi (CMN) has recently been proposed. It includes categories for projected adult size (PAS) and location, satellite nevi counts, and...
Pediatr Dermatol - issue: 1 - volume: 32 - pages: 23-27.

Etchevers, HC.  et al. 2014

Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi

Large and giant congenital melanocytic nevi are rare malformations that offer surprising insight into prenatal and postnatal acquisition of nevi of any size, central and peripheral nervous system...
J. Invest. Dermatol. - issue: 4 - volume: 134 - pages: 879-882.

Yajima, I.  et al. 2013

A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus

BACKGROUND: Patent ductus arteriosus is a life-threatening condition frequent in premature newborns but also present in some term infants. Current mouse models of this malformation generally lead to...
PLoS ONE - issue: 1 - volume: 8 - pages: e53183.

Golzio, C.  et al. 2012

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

The LIM homeodomain gene Islet-1 (ISL1) encodes a transcription factor that has been associated with the multipotency of human cardiac progenitors, and in mice enables the correct deployment of second...
PLoS ONE - issue: 1 - volume: 7 - pages: e30677.

Krupp, DR.  et al. 2012

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE)

BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established...
Birth Defects Res. Part A Clin. Mol. Teratol. - issue: 9 - volume: 94 - pages: 683-692.

Chassaing, N.  et al. 2012

OTX2 mutations contribute to the otocephaly-dysgnathia complex

BACKGROUND: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is...
J. Med. Genet. - issue: 6 - volume: 49 - pages: 373-379.

Van Der Werf, CS.  et al. 2012

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with...
Gastroenterology - issue: 3 - volume: 142 - pages: 453-462.e3.

Etchevers, H.  et al. 2011

Primary culture of chick, mouse or human neural crest cells

A highly enriched population of neural crest cells (NCCs) from amniote embryos, such as from chicks, mice and humans, is desirable for experiments in fate determination. NCCs are also useful for...
Nat Protoc - issue: 10 - volume: 6 - pages: 1568-1577.

Macé, M.  et al. 2011

Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas

PURPOSE: To decipher the biological pathways involved in keratoconus pathophysiology by determining the patterns of differential gene expression between keratoconus and control corneas. METHODS: RNA...
Invest Ophthalmol Vis Sci - issue: 9 - volume: 52 - pages: 6181-6191.

Krengel, S.  et al. 2011

Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, T

Pigment Cell Melanoma Res - issue: 4 - volume: 24 - pages: E1-6.

Cognet, M.  et al. 2011

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

Feingold syndrome (FS) is a syndromic microcephaly entity for which MYCN is the major disease-causing gene. We studied the expression pattern of MYCN at different stages of human embryonic development...
Eur. J. Hum. Genet. - issue: 5 - volume: 19 - pages: 602-606.

de Pontual, L.  et al. 2011

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

Neuroblastoma (NB) is a frequent embryonal tumor of sympathetic ganglia and adrenals with extremely variable outcome. Recently, somatic amplification and gain-of-function mutations of the anaplastic...
Hum. Mutat. - issue: 3 - volume: 32 - pages: 272-276.

Thomas, S.  et al. 2010

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

Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or...
Hum. Mutat. - issue: 10 - volume: 31 - pages: 1134-1141.

Chaabouni, M.  et al. 2010

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment

PURPOSE: Anterior segment ocular dysgenesis (ASOD) is a broad heterogeneous group of diseases detectable at the clinical and molecular level. In a patient with bilateral congenital ASOD including...
Invest. Ophthalmol. Vis. Sci. - issue: 9 - volume: 51 - pages: 4380-4386.

Bessi, .  et al. 2009

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

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with...
Eur J Med Genet - issue: 6 - volume: 52 - pages: 386-392.

de Pontual, L.  et al. 2009

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

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Chassaing, N.  et al. 2009

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

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

de Pontual, L.  et al. 2009

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

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

Benko, S.  et al. 2009

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

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Sajedi, E.  et al. 2008

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.

Thomas, S.  et al. 2008

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

The fields of both developmental and stem cell biology explore how functionally distinct cell types arise from a self-renewing founder population. Multipotent, proliferative human neural crest cells...
Hum. Mol. Genet. - issue: 21 - volume: 17 - pages: 3411-3425.

Lequeux, L.  et al. 2008

Confirmation of RAX gene involvement in human anophthalmia

Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non-syndromic anophthalmia....
Clin. Genet. - issue: 4 - volume: 74 - pages: 392-395.

de Pontual, L.  et al. 2007

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

Neuroblastoma (NB), an embryonic tumour originating from neural crest cells, is one of the most common solid tumours in childhood. Although NB is characterised by numerous recurrent, large-scale...
Eur. J. Cancer - issue: 16 - volume: 43 - pages: 2366-2372.

Golzio, C.  et al. 2007

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

Retinoic acid (RA) is a potent teratogen in all vertebrates when tight homeostatic controls on its endogenous dose, location, or timing are perturbed during early embryogenesis. STRA6 encodes an...
Am. J. Hum. Genet. - issue: 6 - volume: 80 - pages: 1179-1187.

Etchevers, H.  et al. 2007

[Genetic and molecular bases of neurocristopathies]

Arch Pediatr - issue: 6 - volume: 14 - pages: 668-672.

Baala, L.  et al. 2007

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

Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation...
Nat. Genet. - issue: 4 - volume: 39 - pages: 454-456.

Martinovic-Bouriel, J.  et al. 2007

Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym...
Am. J. Med. Genet. A - issue: 3 - volume: 143A - pages: 219-228.

Etchevers, HC.  et al. 2006

Molecular bases of human neurocristopathies

Adv. Exp. Med. Biol. - issue: - volume: 589 - pages: 213-234.

Golzio, C.  et al. 2006

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

BACKGROUND: Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic...
Prenat. Diagn. - issue: 13 - volume: 26 - pages: 1201-1205.

Sanlaville, D.  et al. 2006

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

BACKGROUND: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and...
J. Med. Genet. - issue: 3 - volume: 43 - pages: 211-217.

Etchevers, HC.  et al. 2005

The cap 'n' collar family member NF-E2-related factor 3 (Nrf3) is expressed in mesodermal derivatives of the avian embryo

NF-E2-related factor 3 (Nrf3) is a recently identified member of a family of transcription factors homologous to the Drosophila "cap 'n' collar" or CNC protein. The cnc gene is located immediately 3'...
Int. J. Dev. Biol. - issue: 2-3 - volume: 49 - pages: 363-367.

Deak, KL.  et al. 2005

SNPs in the neural cell adhesion molecule 1 gene (NCAM1) may be associated with human neural tube defects

Neural tube defects (NTDs) are common birth defects, occurring in approximately 1/1,000 births; both genetic and environmental factors are implicated. To date, no major genetic risk factors have been...
Hum. Genet. - issue: 2-3 - volume: 117 - pages: 133-142.

Detrait, E.  et al. 2005

[Vascularization of the head and neck during development]

One of the earliest priorities of the embryonic vascular system is to ensure the metabolic needs of the head. This review covers some of the principles that govern the cellular assembly and...
J Neuroradiol - issue: 3 - volume: 32 - pages: 147-156.

Detrait, ER.  et al. 2005

Human neural tube defects: developmental biology, epidemiology, and genetics

Birth defects (congenital anomalies) are the leading cause of death in babies under 1 year of age. Neural tube defects (NTD), with a birth incidence of approximately 1/1000 in American Caucasians, are...
- issue: - volume: - pages: .

Cai, J.  et al. 2005

Gene expression in pharyngeal arch 1 during human embryonic development

Craniofacial abnormalities are one of the most common birth defects in humans, but little is known about the human genes that control these important developmental processes. To identify relevant...
Hum. Mol. Genet. - issue: 7 - volume: 14 - pages: 903-912.

Karmous-Benailly, H.  et al. 2005

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other...
Am. J. Hum. Genet. - issue: 3 - volume: 76 - pages: 493-504.

Trueba, SS.  et al. 2005

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

Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TITF1, or FOXE1 may account for congenital...
J. Clin. Endocrinol. Metab. - issue: 1 - volume: 90 - pages: 455-462.

Pinson, L.  et al. 2004

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

J. Med. Genet. - issue: 5 - volume: 41 - pages: 381-386.

Amiel, J.  et al. 2003

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

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a life-threatening disorder involving an impaired ventilatory response to hypercarbia and hypoxemia. This core...
Nat. Genet. - issue: 4 - volume: 33 - pages: 459-461.

Etchevers, HC.  et al. 2003

Early expression of hypoxia-inducible factor 1alpha in the chicken embryo

Hypoxia is known to regulate angiogenesis and tissue growth by the induction of the alpha subunit of the heterodimeric transcription factor, hypoxia-inducible factor 1. The expression pattern of...
Gene Expr. Patterns - issue: 1 - volume: 3 - pages: 49-52.

Etchevers, HC.  et al. 2002

Morphogenesis of the branchial vascular sector

The branchial and dorsal cephalic vascular sectors correspond to the blood vessels contained within evolutionarily recent and ancestral parts of the head, respectively. Recent work demonstrates that...
Trends Cardiovasc. Med. - issue: 7 - volume: 12 - pages: 299-304.

Etchevers, HC.  et al. 2001

The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain

Most connective tissues in the head develop from neural crest cells (NCCs), an embryonic cell population present only in vertebrates. We show that NCC-derived pericytes and smooth muscle cells are...
Development - issue: 7 - volume: 128 - pages: 1059-1068.

Duprez, D.  et al. 1999

Expression of Frzb-1 during chick development

We cloned the chick homolog of Xenopus and mouse Frzb-1, a secreted Wnt antagonist and performed in situ hybridizations to determine the pattern of cFrzb-1 expression in the developing chick embryo....
Mech. Dev. - issue: 1-2 - volume: 89 - pages: 179-183.

Etchevers, HC.  et al. 1999

Anterior cephalic neural crest is required for forebrain viability

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part...
Development - issue: 16 - volume: 126 - pages: 3533-3543.