Genetics and Early Disturbances of Breathing Control: The Genetics of Childhood Disease and Development: A Series of Review Articles

The GDNF family: Signalling, biological functions and therapeutic value

2002 • 1,722 citations

Hirschsprung disease, associated syndromes and genetics: a review

2007 • 1,140 citations

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

1999 • 825 citations

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

2003 • 823 citations

Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene

1998 • 488 citations

Hirschsprung disease, associated syndromes, and genetics: a review

2001 • 462 citations

Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.

1970 • 329 citations

Requirement of signalling by receptor tyrosine kinase RET for the directed migration of enteric nervous system progenitor cells during mammalian embryogenesis

2002 • 313 citations

FAILURE OF AUTOMATIC CONTROL OF VENTILATION (ONDINEʼS CURSE)

1970 • 312 citations

Phox2bcontrols the development of peripheral chemoreceptors and afferent visceral pathways

2003 • 299 citations

Mice Lacking Brain-Derived Neurotrophic Factor Exhibit Visceral Sensory Neuron Losses Distinct from Mice Lacking NT4 and Display a Severe Developmental Deficit in Control of Breathing

1996 • 293 citations

The RET receptor: function in development and dysfunction in congenital malformation

2001 • 286 citations

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

2002 • 283 citations

Idiopathic Congenital Central Hypoventilation Syndrome

2003 • 247 citations

Phox2 genes — from patterning to connectivity

2002 • 239 citations

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

2000 • 233 citations

Specification of the Central Noradrenergic Phenotype by the Homeobox Gene Phox2b

2000 • 216 citations

Brain-Derived Neurotrophic Factor and Glial Cell Line-Derived Neurotrophic Factor Are Required Simultaneously for Survival of Dopaminergic Primary Sensory NeuronsIn Vivo

2001 • 157 citations

Congenital central hypoventilation syndrome: An update

1998 • 152 citations

Endothelin 3 selectively promotes survival and proliferation of neural crest-derived glial and melanocytic precursorsin vitro

1998 • 150 citations

Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb

2003 • 144 citations

BDNF Is a Target-Derived Survival Factor for Arterial Baroreceptor and Chemoafferent Primary Sensory Neurons

1999 • 143 citations

Cell lineage determination and the control of neuronal identity in the neural crest.

1997 • 117 citations

Transcriptional control of neurotransmitter phenotype

1999 • 109 citations

RET proto-oncogene is important for the development of respiratory CO2 sensitivity

1997 • 98 citations

Brain‐derived neurotrophic factor is required for normal development of the central respiratory rhythm in mice

1998 • 89 citations

Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome

1993 • 87 citations

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

2003 • 77 citations

Mother–Daughter Transmission of Congenital Central Hypoventilation Syndrome

2002 • 75 citations

Idiopathic congenital central hypoventilation syndrome: Evaluation of brain‐derived neurotrophic factor genomic DNA sequence variation

2002 • 67 citations

Point Mutation in Exon 12 of the Receptor Tyrosine Kinase Proto-oncogene RET in Ondine-Hirschsprung Syndrome

1998 • 63 citations

Idiopathic congenital central hypoventilation syndrome: the next generation

2002 • 60 citations

Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome

2001 • 59 citations

Ventilatory Responses to Hypercapnia and Hypoxia in Mash-1 Heterozygous Newborn and Adult Mice

1999 • 52 citations

Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome

2001 • 51 citations

Visualization of sleep influences on cerebellar and brainstem cardiac and respiratory control mechanisms

2000 • 50 citations

ENDOTHELIN IN THE CENTRAL CONTROL OF CARDIOVASCULAR AND RESPIRATORY FUNCTIONS

1999 • 47 citations

Impaired Ventilatory Responses to Hypoxia in Mice Deficient in Endothelin-Converting-Enzyme-1

2001 • 40 citations

MASH-1/RETpathway involvement in development of brain stem control of respiratory frequency in newborn mice

2001 • 39 citations

Maturation of baseline breathing and of hypercapnic and hypoxic ventilatory responses in newborn mice

2001 • 32 citations

Arousal response to hypoxia in newborn mice

2001 • 31 citations

Respiratory problems in spinal muscular atrophies

1997 • 25 citations

Congenital Central Hypoventilation Syndrome: A Novel Mutation of the RET Gene in an Isolated Case.

2002 • 24 citations

Ondine’s Curse

1999 • 22 citations

Ventilatory responses to hypercapnia and hypoxia in heterozygous c-ret newborn mice

2002 • 20 citations

The Ligand-Receptor Interactions of the Endothelin Systems Are Mediated by Distinct “Message” and “Address” Domains

1993 • 19 citations

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome

2002 • 18 citations

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

2002 • 17 citations

What's taking so long?

2002 • 12 citations