Nitsch L - Search Results

1

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.

Genesio R, Fontana P, Mormile A, Casertano A, Falco M, Conti A, Franzese A, Mozzillo E, Nitsch L, Melis D. Genesio R, et al. Among authors: nitsch l. Mol Cytogenet. 2015 Dec 18;8:96. doi: 10.1186/s13039-015-0199-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26689541 Free PMC article.

2

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

Genesio R, Mormile A, Licenziati MR, De Brasi D, Leone G, Balzano S, Izzo A, Bonfiglio F, Conti A, Fioretti G, Lenta S, Poggiano MR, Siani P, Nitsch L. Genesio R, et al. Among authors: nitsch l. Mol Cytogenet. 2015 Jul 15;8:50. doi: 10.1186/s13039-015-0154-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26175800 Free PMC article.

3

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

Genesio R, Ronga V, Castelluccio P, Fioretti G, Mormile A, Leone G, Conti A, Cavaliere ML, Nitsch L. Genesio R, et al. Among authors: nitsch l. Mol Cytogenet. 2013 Aug 1;6(1):29. doi: 10.1186/1755-8166-6-29. Mol Cytogenet. 2013. PMID: 23915422 Free PMC article.

4

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Fontana P, Genesio R, Casertano A, Cappuccio G, Mormile A, Nitsch L, Iolascon A, Andria G, Melis D. Fontana P, et al. Among authors: nitsch l. Gene. 2014 Mar 15;538(1):69-73. doi: 10.1016/j.gene.2014.01.017. Epub 2014 Jan 15. Gene. 2014. PMID: 24440784

5

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: nitsch l. Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7. Ital J Pediatr. 2016. PMID: 27072107 Free PMC article.

6

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, Mormile A, Ronga V, Conti A, Imperati F, Nitsch L, Andria G. Melis D, et al. Among authors: nitsch l. Am J Med Genet A. 2012 Apr;158A(4):832-5. doi: 10.1002/ajmg.a.34133. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407589

7

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

Cappuccio G, Genesio R, Ronga V, Casertano A, Izzo A, Riccio MP, Bravaccio C, Salerno MC, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: nitsch l. Am J Med Genet A. 2014 Mar;164A(3):753-9. doi: 10.1002/ajmg.a.36326. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357330 Review.

8

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A. Mozzillo E, et al. Among authors: nitsch l. Am J Med Genet A. 2016 Aug;170(8):2196-9. doi: 10.1002/ajmg.a.37770. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256967

9

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Casertano A, Fontana P, Hennekam RC, Tartaglia M, Genesio R, Dieber TB, Ortega L, Nitsch L, Melis D. Casertano A, et al. Among authors: nitsch l. Am J Med Genet A. 2017 Jul;173(7):1896-1902. doi: 10.1002/ajmg.a.38124. Epub 2017 Apr 30. Am J Med Genet A. 2017. PMID: 28462983

10

Targeting Mitochondrial Network Architecture in Down Syndrome and Aging.

Mollo N, Cicatiello R, Aurilia M, Scognamiglio R, Genesio R, Charalambous M, Paladino S, Conti A, Nitsch L, Izzo A. Mollo N, et al. Among authors: nitsch l. Int J Mol Sci. 2020 Apr 29;21(9):3134. doi: 10.3390/ijms21093134. Int J Mol Sci. 2020. PMID: 32365535 Free PMC article. Review.

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