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Items: 1 to 20 of 101

1.

Expanding the phenotypic spectrum of MBOAT7-related intellectual disability.

Jacher JE, Roy N, Ghaziuddin M, Innis JW.

Am J Med Genet B Neuropsychiatr Genet. 2019 Jul 8. doi: 10.1002/ajmg.b.32749. [Epub ahead of print]

PMID:
31282596
2.

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Review.

3.

De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.

Schäfgen J, Cremer K, Becker J, Wieland T, Zink AM, Kim S, Windheuser IC, Kreiß M, Aretz S, Strom TM, Wieczorek D, Engels H.

Eur J Hum Genet. 2016 Dec;24(12):1739-1745. doi: 10.1038/ejhg.2016.90. Epub 2016 Jul 20.

4.

Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder.

Kim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP; University of Washington Center for Mendelian Genomics.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):381-389. doi: 10.1002/ajmg.b.32527. Epub 2017 Mar 22.

5.

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.

Yalnızoǧlu D, Özgül RK, Oǧuz KK, Özer B, Yücel-Yılmaz D, Gürbüz B, Serdaroǧlu E, Erol İ, Topçu M, Dursun A.

J Inherit Metab Dis. 2019 Mar;42(2):381-388. doi: 10.1002/jimd.12016. Epub 2019 Jan 30.

PMID:
30701556
6.

PAX6-Related Aniridia.

Moosajee M, Hingorani M, Moore AT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 May 20 [updated 2018 Oct 18].

7.

Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH.

Ann Lab Med. 2019 May;39(3):299-310. doi: 10.3343/alm.2019.39.3.299.

8.

Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.

Lumish HS, Wynn J, Devinsky O, Chung WK.

J Autism Dev Disord. 2015 Nov;45(11):3764-70. doi: 10.1007/s10803-015-2484-8.

PMID:
26084711
9.

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Prasad A, Sdano MA, Vanzo RJ, Mowery-Rushton PA, Serrano MA, Hensel CH, Wassman ER.

BMC Med Genet. 2018 Mar 20;19(1):46. doi: 10.1186/s12881-018-0555-3.

10.

Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosis.

Gandomi SK, Farwell Gonzalez KD, Parra M, Shahmirzadi L, Mancuso J, Pichurin P, Temme R, Dugan S, Zeng W, Tang S.

J Genet Couns. 2014 Jun;23(3):289-98. doi: 10.1007/s10897-013-9671-6. Epub 2013 Dec 4.

PMID:
24306141
11.

Expanding the phenotype of intellectual disability caused by HIVEP2 variants.

Goldsmith H, Wells A, Sá MJN, Williams M, Heussler H, Buckman M, Pfundt R, de Vries BBA, Goel H.

Am J Med Genet A. 2019 Jun 17. doi: 10.1002/ajmg.a.61271. [Epub ahead of print]

PMID:
31207095
12.

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation.

Lam CW, Yeung WL, Law CY.

Clin Chim Acta. 2017 Jun;469:63-68. doi: 10.1016/j.cca.2017.03.022. Epub 2017 Mar 23.

PMID:
28343847
13.

CASK-Related Disorders.

Moog U, Uyanik G, Kutsche K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2013 Nov 26.

14.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P.

Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16.

15.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK.

Neurogenetics. 2016 Jan;17(1):43-9. doi: 10.1007/s10048-015-0466-9. Epub 2015 Nov 17.

16.

Inattention and hyperactivity/impulsivity among children with attention-deficit/hyperactivity-disorder, autism spectrum disorder, and intellectual disability.

McClain MB, Hasty Mills AM, Murphy LE.

Res Dev Disabil. 2017 Nov;70:175-184. doi: 10.1016/j.ridd.2017.09.009. Epub 2017 Sep 26.

PMID:
28957735
17.

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

Parente DJ, Garriga C, Baskin B, Douglas G, Cho MT, Araujo GC, Shinawi M.

Am J Med Genet A. 2017 Jan;173(1):213-216. doi: 10.1002/ajmg.a.37977. Epub 2016 Nov 16.

PMID:
27865048
18.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms.

Powis Z, Petrik I, Cohen JS, Escolar D, Burton J, van Ravenswaaij-Arts CMA, Sival DA, Stegmann APA, Kleefstra T, Pfundt R, Chikarmane R, Begtrup A, Huether R, Tang S, Shinde DN.

Clin Genet. 2018 May;93(5):1030-1038. doi: 10.1111/cge.13198. Epub 2018 Jan 25.

PMID:
29251763
19.

ADNP-Related Intellectual Disability and Autism Spectrum Disorder.

Van Dijck A, Helsmoortel C, Vandeweyer G, Kooy F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Apr 7.

20.

Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.

Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, Kurzius-Spencer M, Zahorodny W, Robinson Rosenberg C, White T, Durkin MS, Imm P, Nikolaou L, Yeargin-Allsopp M, Lee LC, Harrington R, Lopez M, Fitzgerald RT, Hewitt A, Pettygrove S, Constantino JN, Vehorn A, Shenouda J, Hall-Lande J, Van Naarden Braun K, Dowling NF.

MMWR Surveill Summ. 2018 Apr 27;67(6):1-23. doi: 10.15585/mmwr.ss6706a1. Erratum in: MMWR Morb Mortal Wkly Rep. 2018 May 18;67(19):564. MMWR Morb Mortal Wkly Rep. 2018 Nov 16;67(45):1280. Corrected and republished in: MMWR Morb Mortal Wkly Rep. 2018 Nov 16;67(45):1279.

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