PubMed for id: 78599

Year	Number of Results
1979	1
1980	2
1988	1
1991	3
1992	1
1995	1
1996	2
1998	1
1999	1
2000	1
2001	2
2002	3
2004	2
2005	1
2008	2
2009	5
2010	3
2011	2
2013	1
2014	2
2015	1
2016	1
2017	3
2018	1
2019	1
2020	3
2021	2
2022	5
2023	6
2024	0

1

Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report.

Guzmán GE, Madariaga I, Vargas CJ, Galeano LB, Guerra MA, Nastasi JA. Guzmán GE, et al. J Med Case Rep. 2023 Apr 5;17(1):152. doi: 10.1186/s13256-023-03873-6. J Med Case Rep. 2023. PMID: 37016461 Free PMC article.

2

Genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations.

Jaouadi H, Theron A, Norscini G, Avierinos JF, Zaffran S. Jaouadi H, et al. Mol Med Rep. 2023 Mar;27(3):59. doi: 10.3892/mmr.2023.12946. Epub 2023 Feb 3. Mol Med Rep. 2023. PMID: 36734258 Free PMC article.

3

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

Tise CG, Matalon DR, Manning MA, Byers HM, Grover M. Tise CG, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221101844. doi: 10.1177/23247096221101844. J Investig Med High Impact Case Rep. 2022. PMID: 35638718 Free PMC article.

4

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Bukowska-Olech E, Gawliński P, Jakubiuk-Tomaszuk A, Jędrzejowska M, Obersztyn E, Piechota M, Bielska M, Jamsheer A. Bukowska-Olech E, et al. Orphanet J Rare Dis. 2021 Jun 26;16(1):286. doi: 10.1186/s13023-021-01914-1. Orphanet J Rare Dis. 2021. PMID: 34174922 Free PMC article.

5

A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes.

Patouni K, Cinek O, Pruhova S, Elblova L, Xatzipsalti M, Sertedaki A, Vazeou A. Patouni K, et al. Eur J Med Genet. 2021 Sep;64(9):104264. doi: 10.1016/j.ejmg.2021.104264. Epub 2021 Jun 20. Eur J Med Genet. 2021. PMID: 34161864

6

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.

Wild KT, Gordon T, Bhoj EJ, Du H, Jhangiani SN, Posey JE, Lupski JR, Scott DA, Zackai EH. Wild KT, et al. Am J Med Genet A. 2020 Dec;182(12):2919-2925. doi: 10.1002/ajmg.a.61878. Epub 2020 Sep 21. Am J Med Genet A. 2020. PMID: 32954677 Free PMC article.

7

Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues.

Bonasoni P, Tonni G, Comitini G, Barbieri V, Rinaldini M, Marinelli M. Bonasoni P, et al. Fetal Pediatr Pathol. 2022 Apr;41(2):299-305. doi: 10.1080/15513815.2020.1786199. Epub 2020 Jul 1. Fetal Pediatr Pathol. 2022. PMID: 32609035

8

A case of MODY5-like manifestations without mutations or deletions in coding and minimal promoter regions of the HNF1B gene.

Kuwabara-Ohmura Y, Iizuka K, Liu Y, Takao K, Nonomura K, Kato T, Mizuno M, Hosomichi K, Tajima A, Miyazaki T, Horikawa Y, Yabe D. Kuwabara-Ohmura Y, et al. Endocr J. 2020 Sep 28;67(9):981-988. doi: 10.1507/endocrj.EJ20-0038. Epub 2020 May 27. Endocr J. 2020. PMID: 32461507 Free article.

9

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Bhoj EJ, et al. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472488 Free PMC article.

10

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.

Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Blackburn PR, et al. Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001743. doi: 10.1101/mcs.a001743. Cold Spring Harb Mol Case Stud. 2017. PMID: 28487885 Free PMC article.

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