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Items: 1 to 50 of 64

1.

Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.

Eckert EM, Dominick KC, Pedapati EV, Wink LK, Shaffer RC, Andrews H, Choo TH, Chen C, Kaufmann WE, Tartaglia N, Berry-Kravis EM, Erickson CA.

J Autism Dev Disord. 2019 Nov;49(11):4595-4602. doi: 10.1007/s10803-019-04173-z.

PMID:
31468273
2.

Preventive care services and health behaviors in children with fragile X syndrome.

Gilbertson KE, Jackson HL, Dziuban EJ, Sherman SL, Berry-Kravis EM, Erickson CA, Valdez R.

Disabil Health J. 2019 Oct;12(4):564-573. doi: 10.1016/j.dhjo.2019.04.005. Epub 2019 May 3.

PMID:
31118158
3.

Mutation update for the SATB2 gene.

Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18.

PMID:
31021519
4.

Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.

Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE.

Am J Med Genet A. 2019 Mar;179(3):503-506. doi: 10.1002/ajmg.a.61047. Epub 2019 Jan 23.

PMID:
30672101
5.

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S.

Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Review.

6.

Importance of a specialty clinic for individuals with fragile X syndrome.

Visootsak J, Kidd SA, Anderson T, Bassell JL, Sherman SL, Berry-Kravis EM.

Am J Med Genet A. 2016 Dec;170(12):3144-3149. doi: 10.1002/ajmg.a.37982. Epub 2016 Sep 20.

PMID:
27649377
7.

Clinicians' experiences with the fragile X clinical and research consortium.

Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J.

Am J Med Genet A. 2016 Dec;170(12):3138-3143. doi: 10.1002/ajmg.a.37948. Epub 2016 Sep 8.

PMID:
27604509
8.

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE.

Respir Physiol Neurobiol. 2016 Jan 15;221:59-63. doi: 10.1016/j.resp.2015.11.002. Epub 2015 Nov 10.

PMID:
26555080
9.

Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.

Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE.

Chest. 2016 Mar;149(3):809-15. doi: 10.1378/chest.15-0402. Epub 2016 Jan 12.

PMID:
26378991
10.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT.

Orphanet J Rare Dis. 2015 Aug 25;10:103. doi: 10.1186/s13023-015-0314-x.

11.

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.

Gross C, Hoffmann A, Bassell GJ, Berry-Kravis EM.

Neurotherapeutics. 2015 Jul;12(3):584-608. doi: 10.1007/s13311-015-0355-9. Review.

12.

Congenital Central Hypoventilation Syndrome.

Weese-Mayer DE, Marazita ML, Rand CM, Berry-Kravis EM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2004 Jan 28 [updated 2014 Jan 30].

13.

[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; sous-commission « syndrome d’hypoventilation alvéolaire centrale congénitale » de l’American Thoracic Society.

Rev Mal Respir. 2013 Oct;30(8):706-33. doi: 10.1016/j.rmr.2013.03.007. Epub 2013 Jun 4. French. No abstract available.

14.

Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.

Barrett KT, Rodikova E, Weese-Mayer DE, Rand CM, Marazita ML, Cooper ME, Berry-Kravis EM, Bech-Hansen NT, Wilson RJ.

Acta Paediatr. 2013 Dec;102(12):e546-52. doi: 10.1111/apa.12405.

PMID:
23981011
15.

Developing BACE-1 inhibitors for FXS.

Westmark CJ, Berry-Kravis EM, Ikonomidou C, Yin JC, Puglielli L.

Front Cell Neurosci. 2013 May 28;7:77. doi: 10.3389/fncel.2013.00077. eCollection 2013.

16.

CDKL5 and ARX mutations in males with early-onset epilepsy.

Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.

Pediatr Neurol. 2013 May;48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030. Erratum in: Pediatr Neurol. 2013 Jul;49(1):74. Alkhateeb, Asem [added].

17.

A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.

Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M.

Pediatrics. 2012 Nov;130(5):e1382-4. doi: 10.1542/peds.2011-3844. Epub 2012 Oct 8.

PMID:
23045564
18.

Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial.

Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, Mu Y, Nguyen DV, Gonzalez-Heydrich J, Wang PP, Carpenter RL, Bear MF, Hagerman RJ.

Sci Transl Med. 2012 Sep 19;4(152):152ra127.

19.

Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?

Nirupam N, Sharma R, Chhapola V, Kanwal SK, Berry-Kravis EM, Kumar V.

Indian J Pediatr. 2013 Aug;80(8):688-90. doi: 10.1007/s12098-012-0837-2. Epub 2012 Jul 25.

PMID:
22829249
20.

Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE.

Am J Med Genet A. 2012 Sep;158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20.

PMID:
22821709
21.

Update on Kleefstra Syndrome.

Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T.

Mol Syndromol. 2012 Apr;2(3-5):202-212. Epub 2012 Jan 24.

22.

Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice.

Westmark CJ, Westmark PR, O'Riordan KJ, Ray BC, Hervey CM, Salamat MS, Abozeid SH, Stein KM, Stodola LA, Tranfaglia M, Burger C, Berry-Kravis EM, Malter JS.

PLoS One. 2011;6(10):e26549. doi: 10.1371/journal.pone.0026549. Epub 2011 Oct 26.

23.

Variable human phenotype associated with novel deletions of the PHOX2B gene.

Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE.

Pediatr Pulmonol. 2012 Feb;47(2):153-61. doi: 10.1002/ppul.21527. Epub 2011 Aug 9.

PMID:
21830319
24.

Monozygotic twins discordant for ROHHAD phenotype.

Patwari PP, Rand CM, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE.

Pediatrics. 2011 Sep;128(3):e711-5. doi: 10.1542/peds.2011-0155. Epub 2011 Aug 1.

PMID:
21807698
25.

Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.

Gross C, Berry-Kravis EM, Bassell GJ.

Neuropsychopharmacology. 2012 Jan;37(1):178-95. doi: 10.1038/npp.2011.137. Epub 2011 Jul 27. Review.

26.

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.

Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK.

Acta Neuropathol. 2011 Oct;122(4):467-79. doi: 10.1007/s00401-011-0860-9. Epub 2011 Jul 23.

27.

Effect of Anticoagulants on Amyloid β-Protein Precursor and Amyloid Beta Levels in Plasma.

Westmark CJ, Hervey CM, Berry-Kravis EM, Malter JS.

J Alzheimers Dis Parkinsonism. 2011 Jul 24;1:101.

28.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.

Rand CM, Patwari PP, Rodikova EA, Zhou L, Berry-Kravis EM, Wilson RJ, Bech-Hansen T, Weese-Mayer DE.

Pediatr Res. 2011 Oct;70(4):375-8. doi: 10.1203/PDR.0b013e318229474d.

PMID:
21691246
29.

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.

Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE.

Diagn Mol Pathol. 2010 Dec;19(4):224-31. doi: 10.1097/PDM.0b013e3181eb92ff.

PMID:
21051998
30.

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.

Chonchaiya W, Nguyen DV, Au J, Campos L, Berry-Kravis EM, Lohse K, Mu Y, Utari A, Hervey C, Wang L, Sorensen P, Cook K, Gane L, Tassone F, Hagerman RJ.

Clin Genet. 2010 Jul;78(1):38-46. doi: 10.1111/j.1399-0004.2010.01448.x. Epub 2010 Apr 14.

31.

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee.

Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.

PMID:
20208042
32.

Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.

Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.

Pediatr Pulmonol. 2010 Jan;45(1):92-8. doi: 10.1002/ppul.21170.

PMID:
19960523
33.

Fibroblast phenotype in male carriers of FMR1 premutation alleles.

Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ.

Hum Mol Genet. 2010 Jan 15;19(2):299-312. doi: 10.1093/hmg/ddp497. Epub 2009 Oct 28.

34.

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.

Pediatr Pulmonol. 2009 Jun;44(6):521-35. doi: 10.1002/ppul.21045. Review.

PMID:
19422034
35.

Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.

Ramaswamy S, McBride JL, Han I, Berry-Kravis EM, Zhou L, Herzog CD, Gasmi M, Bartus RT, Kordower JH.

Neurobiol Dis. 2009 Apr;34(1):40-50. doi: 10.1016/j.nbd.2008.12.005. Epub 2008 Dec 25.

PMID:
19150499
36.

Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).

Cummings KJ, Klotz C, Liu WQ, Weese-Mayer DE, Marazita ML, Cooper ME, Berry-Kravis EM, Tobias R, Goldie C, Bech-Hansen NT, Wilson RJ.

Acta Paediatr. 2009 Mar;98(3):482-9. doi: 10.1111/j.1651-2227.2008.01131.x. Epub 2008 Dec 17.

PMID:
19120039
37.

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.

Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE.

Acta Paediatr. 2009 Jan;98(1):192-5. doi: 10.1111/j.1651-2227.2008.01039.x. Epub 2008 Sep 16.

PMID:
18798833
38.

HTR2A variation and sudden infant death syndrome: a case-control analysis.

Rand CM, Berry-Kravis EM, Fan W, Weese-Mayer DE.

Acta Paediatr. 2009 Jan;98(1):58-61. doi: 10.1111/j.1651-2227.2008.01018.x. Epub 2008 Sep 2.

PMID:
18771483
39.

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM.

Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Review.

PMID:
18579454
40.

Genetic variation in the HTR1A gene and sudden infant death syndrome.

Morley ME, Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE.

Am J Med Genet A. 2008 Apr 1;146A(7):930-3. doi: 10.1002/ajmg.a.32112. No abstract available.

PMID:
18286597
41.

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.

Pediatr Pulmonol. 2008 Jan;43(1):77-86.

PMID:
18041756
42.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.

Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE.

Pediatrics. 2007 Jul;120(1):e179-88.

PMID:
17606542
43.

Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.

Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE.

Pediatr Res. 2007 Aug;62(2):180-2.

PMID:
17597646
44.

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.

Diedrich A, Malow BA, Antic NA, Sato K, McEvoy RD, Mathias CJ, Robertson D, Berry-Kravis EM, Weese-Mayer DE.

Clin Auton Res. 2007 Jun;17(3):177-85. Epub 2007 May 31.

PMID:
17541758
45.

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

Tassone F, Adams J, Berry-Kravis EM, Cohen SS, Brusco A, Leehey MA, Li L, Hagerman RJ, Hagerman PJ.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):566-9.

PMID:
17427188
46.

Sudden Infant Death Syndrome: review of implicated genetic factors.

Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM.

Am J Med Genet A. 2007 Apr 15;143A(8):771-88. Review.

PMID:
17340630
47.

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE.

Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. Epub 2006 Aug 3.

PMID:
16888290
48.

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML.

Pediatrics. 2006 Aug;118(2):e408-14.

PMID:
16882781
49.

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.

Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE.

Am J Respir Crit Care Med. 2006 Oct 15;174(8):923-7. Epub 2006 Jul 27.

PMID:
16873766
50.

Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.

Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, Berry-Kravis EM.

Am J Med Genet A. 2006 Aug 1;140(15):1687-91. No abstract available.

PMID:
16830328

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