PubMed for id: 1387409

Year	Number of Results
1980	1
1983	1
1989	1
1992	1
1993	3
1994	1
1995	2
1997	3
1998	3
1999	3
2000	3
2001	2
2002	1
2003	2
2004	1
2005	1
2007	4
2008	4
2009	2
2010	6
2011	23
2012	14
2013	9
2014	16
2015	13
2016	11
2017	17
2018	13
2019	15
2020	17
2021	18
2022	19
2023	11

1

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.

AlMatrifi FR, Al-Shammari AA, Al Nefily RM, AlAnazi RA, Abdulwahab AH, Ammar AS. AlMatrifi FR, et al. Med Arch. 2023;77(4):319-322. doi: 10.5455/medarh.2023.77.319-322. Med Arch. 2023. PMID: 37876568 Free PMC article.

2

Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.

Costanza F, Papi G, Corrado S, Pontecorvi A. Costanza F, et al. Front Endocrinol (Lausanne). 2023 Oct 4;14:1243540. doi: 10.3389/fendo.2023.1243540. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37859990 Free PMC article.

3

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Feng B, Li X, Zhang Q, Wang Y, Gu S, Yao RE, Li Z, Gao S, Chang G, Li Q, Li N, Fu L, Wang J, Wang X. Feng B, et al. Orphanet J Rare Dis. 2023 Sep 11;18(1):284. doi: 10.1186/s13023-023-02878-0. Orphanet J Rare Dis. 2023. PMID: 37697378 Free PMC article.

4

Evolutionary history of MEK1 illuminates the nature of deleterious mutations.

Andrianova EP, Marmion RA, Shvartsman SY, Zhulin IB. Andrianova EP, et al. Proc Natl Acad Sci U S A. 2023 Aug 22;120(34):e2304184120. doi: 10.1073/pnas.2304184120. Epub 2023 Aug 14. Proc Natl Acad Sci U S A. 2023. PMID: 37579140

5

PHACES-like syndrome with TMEM260 compound heterozygous variants.

Kuroda Y, Saito Y, Enomoto Y, Naruto T, Mitsui J, Kurosawa K. Kuroda Y, et al. Am J Med Genet A. 2023 Aug;191(8):2215-2218. doi: 10.1002/ajmg.a.63245. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183566

6

A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?

Sodero G, Colonna AT, Purcaro V, Onesimo R, Zampino G, Vento G. Sodero G, et al. J Neonatal Perinatal Med. 2023;16(2):349-353. doi: 10.3233/NPM-231217. J Neonatal Perinatal Med. 2023. PMID: 37182847

7

Ellis-van Creveld syndrome in a neonate: a case report.

Asif S, Salahudeen AA, Nadeem G, Sattar A. Asif S, et al. J Pak Med Assoc. 2023 Mar;73(3):687-689. doi: 10.47391/JPMA.5375. J Pak Med Assoc. 2023. PMID: 36932784 Free article.

8

NOTCH1 loss of the TAD and PEST domain: An antimorph?

Boerkoel P, Huynh S, Yang GX, Boerkoel CF, Patel MS, Lehman A, Terry J, Elbert A. Boerkoel P, et al. Am J Med Genet A. 2023 Jun;191(6):1593-1598. doi: 10.1002/ajmg.a.63167. Epub 2023 Mar 3. Am J Med Genet A. 2023. PMID: 36866832

9

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Onesimo R, Giorgio V, Viscogliosi G, Sforza E, Kuczynska E, Margiotta G, Iademarco M, Proli F, Rigante D, Zampino G, Leoni C. Onesimo R, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):478-493. doi: 10.1002/ajmg.c.32019. Epub 2022 Dec 14. Am J Med Genet C Semin Med Genet. 2022. PMID: 36515923 Review.

10

The heart in RASopathies.

Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.

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