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European Journal of Pediatric Surgery Reports, ISSN 2194-7619, 01/2019, Volume 7, Issue 1, pp. e63 - e65
Abstract Harlequin syndrome (HS) is a rare dysautonomia of the sympathetic nervous system leading to asymmetric facial flushing and sweating. In the... 
Case Report | thoracoscopic repair | neurocristopathy | esophageal atresia | Harlequin syndrome
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 05/2017, Volume 38, Issue 5, pp. 581 - 593
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS... 
G protein-coupled receptor | ENDOTHELIN-B RECEPTOR | SOX10 MUTATIONS | MECHANISM | ENTERIC NERVOUS-SYSTEM | MITF | neurocristopathy | WAARDENBURG-HIRSCHSPRUNG-DISEASE | endothelin | MELANOMA | GENE | Waardenburg syndrome | GENETICS & HEREDITY | LIGAND | DELETIONS
Journal Article
World Neurosurgery, ISSN 1878-8750, 06/2019, Volume 126, pp. 399 - 404
Paraganglioma in cavernous sinus is a rare entity often misdiagnosed as meningioma or schwannoma on radiology. The embryological origin, from cells of neural... 
Cavernous sinus | Paraganglioma | Salt and pepper appearance | Neurocristopathies | Hypertension | Immunohistochemistry | Comorbidity | Meningioma
Journal Article
Journal Article
Hearing Research, ISSN 0378-5955, 05/2019, Volume 376, pp. 22 - 32
Journal Article
Biochemical Pharmacology, ISSN 0006-2952, 05/2019, Volume 163, pp. 362 - 370
Treacher Collins Syndrome (TCS) is a congenital disease characterized by defects in the craniofacial skeleton and absence of mental alterations. Recently we... 
Cnbp | Treacle | Bortezomib | Ribosomopathies | Neurocristopathies | PROTEIN | TRANSCRIPTION | PROLIFERATION | IDENTIFICATION | PRODUCT | COLLINSSYNDROME,TREACHER | PHARMACOLOGY & PHARMACY | MUTATIONS | SYNDROME TCOF1 GENE | Genetic disorders | RNA | Cell death | Analysis
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 31, pp. E7351 - E7360
Journal Article
FRONTIERS IN PHYSIOLOGY, ISSN 1664-042X, 09/2014, Volume 5
Precise control of self-renewal and differentiation of progenitor cells into the cranial neural crest (CNC) pool ensures proper head development, guided by... 
SoxB | stem cells | PHYSIOLOGY | TRANSCRIPTION FACTOR FOXD3 | EMBRYONIC EXPRESSION | neural progenitors | HUMAN NEUROCRISTOPATHIES | SPINAL-CORD | neurocristopathies | HOX GENES | Sox genes | CIRCUIT FORMATION | craniofacial development | CHICKEN SOX2 | INNER-EAR DEVELOPMENT | CELL-ADHESION MOLECULES | heterochrony
Journal Article
Development (Cambridge), ISSN 0950-1991, 03/2019, Volume 146, Issue 5, p. dev169821
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... 
Vertebrate embryo | Cell fate | Neural crest | Neurocristopathies | STEM-CELLS | DORSAL-ROOT GANGLIA | SELF-RENEWAL | DEVELOPMENTAL BIOLOGY | MOUSE BONE-MARROW | REVEALS MULTIPOTENCY | SOMATIC GNAQ MUTATION | HOMEOTIC TRANSFORMATION | B RECEPTOR GENE | SMOOTH-MUSCLE-CELLS | HIRSCHSPRUNG DISEASE
Journal Article
FRONTIERS IN PEDIATRICS, ISSN 2296-2360, 2014, Volume 2, p. 99
Objective: To define the prevalence and characteristics of associated congenital heart diseases (CHDs) in patients with Hirschsprung's disease (HSCR). Method:... 
Hirschsprung's disease | congenital heart disease | PEDIATRICS | neurocristopathy | cardiac screening | echocardiography
Journal Article