PubMed for id: 369864

Year	Number of Results
1991	1
1998	1
1999	1
2006	2
2012	1
2018	1
2019	2
2020	1
2021	1
2024	0

1

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.

Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K. Schneeberger PE, et al. Am J Hum Genet. 2020 Dec 3;107(6):1044-1061. doi: 10.1016/j.ajhg.2020.10.007. Epub 2020 Nov 6. Am J Hum Genet. 2020. PMID: 33159882 Free PMC article.

2

Quantitative dysmorphology assessment in Fabry disease.

Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Ries M, et al. Genet Med. 2006 Feb;8(2):96-101. doi: 10.1097/01.gim.0000200950.25118.dd. Genet Med. 2006. PMID: 16481892 Free article.

3

Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.

Grand K, Skraban CM, Cohen JL, Dowsett L, Mazzola S, Tarpinian J, Bedoukian E, Nesbitt A, Denenberg B, Lulis L, Santani A, Zackai EH, Deardorff MA. Grand K, et al. Am J Med Genet A. 2021 Sep;185(9):2766-2775. doi: 10.1002/ajmg.a.62387. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34160123

4

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Al-Qattan MM, Jarman A, Rafique A, Al-Hassnan ZN, Al-Qattan HM. Al-Qattan MM, et al. BMC Med Genet. 2019 Jan 11;20(1):12. doi: 10.1186/s12881-019-0747-5. BMC Med Genet. 2019. PMID: 30635043 Free PMC article.

5

Kabuki syndrome: international consensus diagnostic criteria.

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738

6

A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?

Kasnauskiene J, Ciuladaite Z, Preiksaitiene E, Matulevičienė A, Alexandrou A, Koumbaris G, Sismani C, Pepalytė I, Patsalis PC, Kučinskas V. Kasnauskiene J, et al. Eur J Med Genet. 2012 Apr;55(4):274-7. doi: 10.1016/j.ejmg.2012.02.010. Epub 2012 Mar 6. Eur J Med Genet. 2012. PMID: 22450339

7

The FG syndrome: report of a large Italian series.

Battaglia A, Chines C, Carey JC. Battaglia A, et al. Am J Med Genet A. 2006 Oct 1;140(19):2075-9. doi: 10.1002/ajmg.a.31302. Am J Med Genet A. 2006. PMID: 16691600

8

Clinical and behavioral characteristics in FG syndrome.

Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. Graham JM Jr, et al. Am J Med Genet. 1999 Aug 27;85(5):470-5. Am J Med Genet. 1999. PMID: 10405444

9

Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.

Lukusa T, Fryns JP. Lukusa T, et al. Am J Med Genet. 1998 Dec 28;80(5):454-8. doi: 10.1002/(sici)1096-8628(19981228)80:5<454::aid-ajmg4>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9880208

10

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2).

Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T. Kondo I, et al. Am J Med Genet. 1991 Nov 1;41(2):225-9. doi: 10.1002/ajmg.1320410219. Am J Med Genet. 1991. PMID: 1785639

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

10 results

Results by year