Similar articles for PMID: 19161147

Year	Number of Results
1977	1
1985	1
1986	1
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1988	2
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1991	1
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1997	1
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1999	5
2000	6
2001	5
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2004	4
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2006	3
2007	2
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2011	3
2013	1
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2016	3
2017	3
2018	5
2019	5
2020	1
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2024	0

1

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Rajab A, et al. Am J Med Genet A. 2009 Feb;149A(2):129-37. doi: 10.1002/ajmg.a.32630. Am J Med Genet A. 2009. PMID: 19161147 Free PMC article.

2

Clinical characterization of individuals with the distal 1q21.1 microdeletion.

Edwards SD, Schulze KV, Rosenfeld JA, Westerfield LE, Gerard A, Yuan B, Grigorenko EL, Posey JE, Bi W, Liu P. Edwards SD, et al. Am J Med Genet A. 2021 May;185(5):1388-1398. doi: 10.1002/ajmg.a.62104. Epub 2021 Feb 11. Am J Med Genet A. 2021. PMID: 33576134

3

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL. Scala M, et al. Eur J Hum Genet. 2020 Nov;28(11):1509-1519. doi: 10.1038/s41431-020-0669-x. Epub 2020 Jun 22. Eur J Hum Genet. 2020. PMID: 32572202 Free PMC article.

4

Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features.

Zaki MS, Eid OM, Eid MM, Mohamed AM, Sayed ISM, Abdel-Hamid MS, Abdel-Salam GMH. Zaki MS, et al. Cytogenet Genome Res. 2019;159(3):130-136. doi: 10.1159/000504075. Epub 2019 Nov 13. Cytogenet Genome Res. 2019. PMID: 31715598

5

[Infant with intracranial calcifications and retinopathy].

Hidalgo-Sanz J, Perez-Delgado R, Garcia-Jimenez I, Lopez-Pison J, Castillo-Castejon O, Poch ML, Izquierdo-Alvarez S. Hidalgo-Sanz J, et al. Rev Neurol. 2019 Oct 1;69(7):289-292. doi: 10.33588/rn.6907.2019166. Rev Neurol. 2019. PMID: 31559627 Free article. Spanish.

6

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.

Mathorne SW, Sørensen K, Fagerberg C, Bode M, Hertz JM. Mathorne SW, et al. BMC Neurol. 2019 Apr 12;19(1):60. doi: 10.1186/s12883-019-1292-8. BMC Neurol. 2019. PMID: 30979360 Free PMC article. Review.

7

Neuropathological Findings in a Case of IFIH1-Related Aicardi-Goutières Syndrome.

Gilani A, Adang LA, Vanderver A, Collins A, Kleinschmidt-DeMasters BK. Gilani A, et al. Pediatr Dev Pathol. 2019 Nov-Dec;22(6):566-570. doi: 10.1177/1093526619837797. Epub 2019 Apr 5. Pediatr Dev Pathol. 2019. PMID: 30952201 Free PMC article.

8

Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.

9

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Vineeth VS, Dutta UR, Tallapaka K, Das Bhowmik A, Dalal A. Vineeth VS, et al. Gene. 2018 Oct 5;673:56-60. doi: 10.1016/j.gene.2018.06.045. Epub 2018 Jun 18. Gene. 2018. PMID: 29920362

10

Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I. Low KJ, et al. Eur J Med Genet. 2019 Feb;62(2):97-102. doi: 10.1016/j.ejmg.2018.06.009. Epub 2018 Jun 12. Eur J Med Genet. 2019. PMID: 29902590 No abstract available.

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