Nitsch L - Search Results

1

Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion.

Titomanlio L, Romano A, Conti A, Genesio R, Salerno M, De Brasi D, Nitsch L, Del Giudice E. Titomanlio L, et al. Among authors: nitsch l. Am J Med Genet A. 2004 Jun 1;127A(2):197-200. doi: 10.1002/ajmg.a.20667. Am J Med Genet A. 2004. PMID: 15108211

2

40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.

Izzo A, Genesio R, Ronga V, Nocera V, Marullo L, Cicatiello R, Sglavo G, Paladini D, Conti A, Nitsch L. Izzo A, et al. Among authors: nitsch l. Eur J Med Genet. 2012 Feb;55(2):140-4. doi: 10.1016/j.ejmg.2011.12.004. Epub 2012 Jan 2. Eur J Med Genet. 2012. PMID: 22269966

3

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Magli A, Della Casa R. Ginocchio VM, et al. Among authors: nitsch l. Eur J Med Genet. 2008 Nov-Dec;51(6):658-65. doi: 10.1016/j.ejmg.2008.07.011. Epub 2008 Aug 13. Eur J Med Genet. 2008. PMID: 18762283

4

De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.

Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C. Cirillo E, et al. Among authors: nitsch l. Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903806 Free article.

5

A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

Terrone G, Cappuccio G, Genesio R, Esposito A, Fiorentino V, Riccitelli M, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Among authors: nitsch l. Am J Med Genet A. 2014 Jan;164A(1):190-3. doi: 10.1002/ajmg.a.36200. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243641

6

Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.

Genesio R, De Brasi D, Conti A, Borghese A, Di Micco P, Di Costanzo P, Paladini D, Ungaro P, Nitsch L. Genesio R, et al. Among authors: nitsch l. Am J Med Genet A. 2004 Aug 1;128A(4):422-8. doi: 10.1002/ajmg.a.30112. Am J Med Genet A. 2004. PMID: 15264291

7

Short 9q interstitial deletion in a neonate with lethal non-immune hydrops.

Sellitto M, Genesio R, Conti A, Fabbrini F, Nitsch L, D'Armiento M, Capasso L, Paludetto R, Raimondi F. Sellitto M, et al. Among authors: nitsch l. Am J Med Genet A. 2008 Oct 1;146A(19):2566-9. doi: 10.1002/ajmg.a.32350. Am J Med Genet A. 2008. PMID: 18780369 No abstract available.

8

Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

Melis D, Genesio R, Cappuccio G, MariaGinocchio V, Casa RD, Menna G, Buffardi S, Poggi V, Leszle A, Imperati F, Carella M, Izzo A, Del Giudice E, Nitsch L, Andria G. Melis D, et al. Among authors: nitsch l. Am J Med Genet A. 2011 Jul;155A(7):1697-705. doi: 10.1002/ajmg.a.33976. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671372

9

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

10

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.

Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP. Passariello A, et al. Among authors: nitsch l. Eur J Med Genet. 2013 Nov;56(11):626-34. doi: 10.1016/j.ejmg.2013.08.005. Epub 2013 Sep 13. Eur J Med Genet. 2013. PMID: 24035971

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