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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2018, Volume 115, Issue 51, pp. 13021 - 13026
The respiratory rhythm is generated by the preBotzinger complex in the medulla oblongata, and is modulated by neurons in the retrotrapezoid nucleus (RTN),... 
Phox2b | MIGRATION | RESPIRATORY RHYTHMOGENESIS | GENETIC IDENTIFICATION | neuronal fate change | LBX1 | transcriptional cooperativity | CO2 CHEMOSENSITIVITY | congenital hypoventilation | LBX1/Lbx1 | NEURONS | BINDING | INTERNEURONS
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Journal Article
Nature genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 445 - U261
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 7 - 14
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 483 - 492
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2018, Volume 176, Issue 6, pp. 1455 - 1462
KIAA2022 is an X‐linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been... 
KIAA2022 | X‐linked intellectual disability | X-linked intellectual disability | AUTISM | LINKED INTELLECTUAL DISABILITY | MUTATION | GENETICS & HEREDITY | Gastroesophageal reflux | Stomach | Mastocytosis | Strabismus | Motility | Cortex | Gastrointestinal tract | Males | Mental retardation | Genetic screening | Literature reviews | Autism | Keratoconus | Vomiting | Prognathism | Constipation
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2018, Volume 115, Issue 51, pp. 13021 - 13026
textabstractThe respiratory rhythm is generated by the preBötzinger complex in the medulla oblongata, and is modulated by neurons in the retrotrapezoid nucleus... 
Phox2b | Congenital hypoventilation | Transcriptional cooperativity | LBX1/Lbx1 | Neuronal fate change | MIGRATION | RESPIRATORY RHYTHMOGENESIS | GENETIC IDENTIFICATION | MULTIDISCIPLINARY SCIENCES | neuronal fate change | LBX1 | transcriptional cooperativity | CO2 CHEMOSENSITIVITY | congenital hypoventilation | NEURONS | BINDING | INTERNEURONS | Neurons - pathology | Frameshift Mutation | Homeodomain Proteins - metabolism | Humans | Male | Sleep Apnea, Central - etiology | Female | Neurons - metabolism | Muscle Proteins - physiology | Animals, Newborn | Genome-Wide Association Study | Sleep Apnea, Central - metabolism | Cells, Cultured | Transcription Factors - genetics | Homeodomain Proteins - genetics | Hypoventilation - etiology | Mice, Knockout | Whole Genome Sequencing | Transcription Factors - metabolism | Animals | Hypoventilation - pathology | Pedigree | Hypoventilation - metabolism | Mice | Respiration | Hypoventilation - congenital | Sleep Apnea, Central - pathology | Physiological aspects | Transcription factors | Genetic disorders | Gene mutations | Health aspects | Cell culture | Congenital diseases | Neurons | Retrotrapezoid nucleus | Carbon dioxide | Frameshift mutation | Genomes | Proteins | Hypoventilation | Rodents | Lbx1 protein | Medulla oblongata | Mutation | Phox2b protein | Deoxyribonucleic acid--DNA | Life Sciences | Cognitive Sciences | Neurons and Cognition | Psychology and behavior | Neurobiology | Biological Sciences
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears,... 
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 3087 - 15
Journal Article