PubMed for id: 860411

Year	Number of Results
1975	2
1979	1
1980	2
1981	3
1982	3
1983	1
1985	2
1986	1
1987	1
1988	3
1990	2
1991	2
1992	5
1993	4
1994	2
1995	2
1996	1
1997	4
1998	3
1999	2
2000	3
2001	3
2002	1
2003	2
2004	3
2005	1
2006	5
2007	3
2008	3
2009	8
2010	6
2011	4
2012	4
2013	8
2014	7
2015	2
2016	5
2017	7
2018	4
2019	4
2020	7
2021	5
2022	4
2023	3
2024	1

1

Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.

Mir A, AlMudhry M, AlOtaibi W, AlHazmi R, AlBaradie R, AlHarbi Q, Bashir S, Chamdine O, Housawi Y. Mir A, et al. J Pediatr Hematol Oncol. 2023 Jul 1;45(5):e613-e620. doi: 10.1097/MPH.0000000000002641. Epub 2023 Feb 20. J Pediatr Hematol Oncol. 2023. PMID: 36897649

2

Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.

Sambharia M, Freese ME, Donato F, Bathla G, Abukhiran IMM, Dantuma MI, Mansilla MA, Thomas CP. Sambharia M, et al. Nephron. 2024;148(4):264-272. doi: 10.1159/000527991. Epub 2023 Jan 6. Nephron. 2024. PMID: 36617405 Review.

3

Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.

Iyengar R, Deardorff M, Schmidt R, Nagiel A. Iyengar R, et al. Ophthalmic Genet. 2023 Dec;44(6):572-576. doi: 10.1080/13816810.2022.2161580. Epub 2023 Jan 3. Ophthalmic Genet. 2023. PMID: 36594712 Review.

4

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family.

Zhang S, Zhang F, Wang J, Yang S, Ren Y, Rui X, Xia X, Sheng X. Zhang S, et al. Cells. 2022 Nov 14;11(22):3602. doi: 10.3390/cells11223602. Cells. 2022. PMID: 36429029 Free PMC article.

5

Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.

Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L. Winter-Paquette LM, et al. Eur J Med Genet. 2022 May;65(5):104501. doi: 10.1016/j.ejmg.2022.104501. Epub 2022 Apr 1. Eur J Med Genet. 2022. PMID: 35378319

6

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report.

Rolland M, Dubourg C, Cospain A, Droitcourt C, Pasquier L. Rolland M, et al. Pediatr Dermatol. 2022 May;39(3):434-437. doi: 10.1111/pde.14969. Epub 2022 Mar 8. Pediatr Dermatol. 2022. PMID: 35258128 Free PMC article.

7

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.

Li H, Huang Y, Li J, Xie M. Li H, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1860. doi: 10.1002/mgg3.1860. Epub 2022 Feb 12. Mol Genet Genomic Med. 2022. PMID: 35150469 Free PMC article.

8

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

Abad-Morales V, Wert A, Ruiz Gómez MÁ, Navarro R, Pomares E. Abad-Morales V, et al. Int J Mol Sci. 2021 Feb 24;22(5):2262. doi: 10.3390/ijms22052262. Int J Mol Sci. 2021. PMID: 33668384 Free PMC article.

9

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L. Colombo L, et al. Invest Ophthalmol Vis Sci. 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. Invest Ophthalmol Vis Sci. 2021. PMID: 33576794 Free PMC article.

10

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.

Sheppard SE, Barrett B, Muraresku C, McKnight H, De Leon DD, Lord K, Ganetzky R. Sheppard SE, et al. Am J Med Genet A. 2021 Feb;185(2):566-570. doi: 10.1002/ajmg.a.61978. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33251707 Free PMC article.

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