Elizabeth Berry-Kravis to Phenotype
This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Phenotype.
Connection Strength
1.756
-
Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7.
Score: 0.464
-
Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Sci Adv. 2019 08; 5(8):eaaw7195.
Score: 0.153
-
Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul; 12(3):584-608.
Score: 0.115
-
Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65.
Score: 0.108
-
Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
Score: 0.088
-
Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26.
Score: 0.064
-
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
Score: 0.062
-
Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet A. 2006 Aug 01; 140(15):1687-91.
Score: 0.062
-
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. Mol Genet Metab. 2023 11; 140(3):107656.
Score: 0.050
-
Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044.
Score: 0.050
-
Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation. Fertil Steril. 2021 09; 116(3):843-854.
Score: 0.043
-
Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiol Behav. 2020 02 01; 214:112746.
Score: 0.039
-
Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. Nat Commun. 2019 04 12; 10(1):1710.
Score: 0.037
-
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum. 2016 10; 15(5):578-86.
Score: 0.031
-
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31.
Score: 0.031
-
Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. Chest. 2016 Mar; 149(3):809-15.
Score: 0.030
-
The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl). 2014 Mar; 231(6):1237-50.
Score: 0.026
-
CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
Score: 0.025
-
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.024
-
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75.
Score: 0.024
-
Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice. PLoS One. 2011; 6(10):e26549.
Score: 0.022
-
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011 Oct; 70(4):375-8.
Score: 0.022
-
Monozygotic twins discordant for ROHHAD phenotype. Pediatrics. 2011 Sep; 128(3):e711-5.
Score: 0.022
-
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11; 88(2):138-49.
Score: 0.021
-
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15; 181(6):626-44.
Score: 0.020
-
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One. 2010 Mar 05; 5(3):e9476.
Score: 0.020
-
Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
Score: 0.019
-
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
Score: 0.019
-
Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
Score: 0.015
-
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: 0.015
-
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
Score: 0.014
-
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003 Dec 15; 123A(3):267-78.
Score: 0.013
-
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7.
Score: 0.010