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Cell, ISSN 0092-8674, 07/2014, Volume 158, Issue 2, pp. 263 - 276
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
Journal of Clinical Sleep Medicine : JCSM, ISSN 1550-9389, 08/2018, Volume 14, Issue 8, pp. 1427 - 1430
We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation... 
Congenital central hypoventilation syndrome | Neurology | Clinical Neurology | NPARM | Pulmonary and Respiratory Medicine | PHOX2B | Positional central sleep apnea | Journal Article
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 04/2018, Volume 24, Issue 7, p. 1594
Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the... 
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 4, pp. 380 - 384
Journal Article
Journal of clinical sleep medicine, ISSN 1550-9389, 08/2018, Volume 14, Issue 8, pp. 1427 - 1430
We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation... 
CENTRAL HYPOVENTILATION SYNDROME | positional central sleep apnea | congenital central hypoventilation syndrome | 3-GENERATION FAMILY | NPARM | PHOX2B
Journal Article
Journal Article
by Jacquemont, S and Reymond, A and Zufferey, F and Harewood, L and Walters, R.G and Kutalik, Z and Martinet, D and Shen, Y and Valsesia, A and Beckmann, N.D and Thorleifsson, G and Belfiore, M and Bouquillon, S and Campion, D and Leeuw, N. de and Vries, L.B.A. de and Esko, T and Fernandez, B.A and Fernandez-Aranda, F and Fernandez-Real, J.M and Gratacos, M and Guilmatre, A and Hoyer, J and Jarvelin, M.R and Kooy, R.F and Kurg, A and Caignec, C. Le and Mannik, K and Platt, O.S and Sanlaville, D and Haelst, M.M. van and Villatoro Gomez, S and Walha, F and Wu, B.L and Yu, Y and Aboura, A and Addor, M.C and Alembik, Y and Antonarakis, S.E and Arveiler, B and Barth, M and Bednarek, N and Bena, F and Bergmann, S and Beri, M and Bernardini, L and Blaumeiser, B and Bonneau, D and Bottani, A and Boute, O and Brunner, H.G and Cailley, D and Callier, P and Chiesa, J and Chrast, J and Coin, L and Coutton, C and Cuisset, J.M and Cuvellier, J.C and David, A and Freminville, B. de and Delobel, B and Delrue, M.A and Demeer, B and Descamps, D and Didelot, G and Dieterich, K and Disciglio, V and Doco-Fenzy, M and nat, S and Duban-Bedu, B and Dubourg, C and El-Sayed Moustafa, J.S and Elliott, P and Faas, B.H.W and Faivre, L and Faudet, A and Fellmann, F and Ferrarini, A and Fisher, R and Flori, E and Forer, L and Gaillard, D and Gerard, M and Gieger, C and Gimelli, S and Gimelli, G and Grabe, H.J and Guichet, A and Guillin, O and Hartikainen, A.L and Heron, D and Hippolyte, L and Holder, M and Homuth, G and Isidor, B and Jaillard, S and Jaros, Z and Jimenez-Murcia, S and Helas, G.J and ...
Nature, ISSN 0028-0836, 2011, Volume 478, Issue 7367, pp. 97 - 102
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) DEPENDENT PROBE AMPLIFICATION | FAILURE-TO-THRIVE | METABOLIC SYNDROME | RELATIVE QUANTIFICATION | SNP GENOTYPING DATA | HIDDEN-MARKOV MODEL | MULTIDISCIPLINARY SCIENCES | BODY-MASS INDEX | TIME QUANTITATIVE PCR | COPY NUMBER VARIATION | CIRCULAR BINARY SEGMENTATION | Humans | Middle Aged | Child, Preschool | RNA, Messenger - analysis | Head - anatomy & histology | Infant | Male | Developmental Disabilities - genetics | Gene Expression Profiling | North America | Obesity - genetics | Case-Control Studies | Young Adult | Mental Disorders - genetics | Aging | Gene Duplication - genetics | Adult | Female | Transcription, Genetic | Energy Metabolism - genetics | Child | Infant, Newborn | Chromosomes, Human, Pair 16 - genetics | Body Mass Index | Gene Dosage - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Europe | RNA, Messenger - genetics | Mutation - genetics | Body Height - genetics | Thinness - genetics | Phenotype | Comparative Genomic Hybridization | Adolescent | Heterozygote | Aged | Cohort Studies | Sequence Deletion - genetics | Obesity | Chromosome mapping | Usage | Genetic variation | Genetic aspects | Cognition disorders | Research | Risk factors | Schizophrenia | Gender | Behavior | Gene expression | Bias | Life Sciences | Human health and pathology | Genetics | Endocrinology and metabolism | Gene Duplication | Developmental Disabilities | Sequence Deletion | Thinness | genetics | Genetic Predisposition to Disease | Head | Gene Dosage | analysis | Energy Metabolism | Mental Disorders | Chromosomes, Human, Pair 16 | Body Height | Mutation | anatomy & histology | RNA, Messenger
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 781 - 791
Journal Article