Elizabeth Berry-Kravis to Sleep Apnea, Central
This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Sleep Apnea, Central.
Connection Strength
2.553
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TECPR2 mutation-associated respiratory dysregulation: more than central apnea. J Clin Sleep Med. 2020 06 15; 16(6):977-982.
Score: 0.718
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Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
Score: 0.274
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Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med. 2004 Jul 01; 170(1):16-21.
Score: 0.234
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Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members. Am J Med Genet A. 2019 03; 179(3):503-506.
Score: 0.163
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Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. Chest. 2016 Mar; 149(3):809-15.
Score: 0.132
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]. Rev Mal Respir. 2013 Oct; 30(8):706-33.
Score: 0.110
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A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4.
Score: 0.105
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? Indian J Pediatr. 2013 Aug; 80(8):688-90.
Score: 0.104
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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet A. 2012 Sep; 158A(9):2297-301.
Score: 0.104
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Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
Score: 0.097
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Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35.
Score: 0.083
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Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. Clin Auton Res. 2007 Jun; 17(3):177-85.
Score: 0.073
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
Score: 0.069
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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006 Oct 15; 174(8):923-7.
Score: 0.069
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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; 59(1):39-45.
Score: 0.066
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005 Jan 01; 171(1):88.
Score: 0.061
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Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS). Genet Med. 2021 09; 23(9):1656-1663.
Score: 0.048
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Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol. 2010 Dec; 19(4):224-31.
Score: 0.023
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Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan; 98(1):192-5.
Score: 0.020