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Items: 15

1.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM.

Genet Med. 2020 Jan 17. doi: 10.1038/s41436-019-0747-z. [Epub ahead of print]

PMID:
31949314
2.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

3.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

4.

Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.

Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC.

Clin Case Rep. 2013 Oct 1;1(1). doi: 10.1002/ccr3.11. No abstract available.

5.

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease.

Toriello HV, Erick M, Alessandri JL, Bailey D, Brunetti-Pierri N, Cox H, Fryer A, Marty D, McCurdy C, Mulliken JB, Murphy H, Omlor J, Pauli RM, Ranells JD, Sanchez-Valle A, Tobiasz A, Van Maldergem L, Lin AE.

Am J Med Genet A. 2013 Mar;161A(3):417-29. doi: 10.1002/ajmg.a.35765. Epub 2013 Feb 12.

PMID:
23404932
6.

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.

Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ.

Clin Genet. 2012 Jan;81(1):93-5. doi: 10.1111/j.1399-0004.2011.01700.x. No abstract available.

7.

Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.

Ranells JD, Carver JD, Kirby RS.

Adv Pediatr. 2011;58(1):195-206. doi: 10.1016/j.yapd.2011.03.005. Review. No abstract available.

PMID:
21736982
8.

Prenatal diagnosis of a 4q33-4qter deletion in a fetus with hydrops.

Russell Z, Kontopoulos EV, Quintero RA, DeBauche DM, Ranells JD.

Fetal Diagn Ther. 2008;24(3):250-3. doi: 10.1159/000151671. Epub 2008 Sep 2.

PMID:
18765938
9.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA.

Eur J Hum Genet. 2008 Jan;16(1):28-35. Epub 2007 Oct 31.

10.

Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.

Lacson AG, Donaldson G, Barness EG, Ranells JD, Pomerance HH.

Pediatr Pathol Mol Med. 2002 Nov-Dec;21(6):569-84.

PMID:
12622018
11.

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

Sutcliffe MJ, Mueller OT, Kousseff BG, Dumont DP, McFarland JA, Mawani F, Conforto D, Ranells JD.

Am J Med Genet. 2001 Aug 1;102(2):192-9.

PMID:
11477615
12.

Localization of the giant axonal neuropathy gene to chromosome 16q24.

Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschütter A, Ranells J, Camfield PR, Ptácek LJ.

Ann Neurol. 1998 Jan;43(1):143-8.

PMID:
9450783
13.

Lowry-Maclean syndrome does exist.

Kousseff BG, Ranells JD.

Am J Med Genet. 1994 Nov 15;53(3):300-1. No abstract available.

PMID:
7856667
14.

Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome.

Brodsky MC, Keppen LD, Rice CD, Ranells JD.

Am J Ophthalmol. 1990 Apr 15;109(4):450-6.

PMID:
2330948
15.

Autism in association with fragile X syndrome in females: implications for diagnosis and treatment in children.

Edwards DR, Keppen LD, Ranells JD, Gollin SM.

Neurotoxicology. 1988 Fall;9(3):359-65.

PMID:
3200505

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