Gentilin B - Search Results

1

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: gentilin b. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.

2

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.

Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F. Gentilin B, et al. Ultrasound Obstet Gynecol. 2010 Sep;36(3):315-23. doi: 10.1002/uog.7761. Ultrasound Obstet Gynecol. 2010. PMID: 20812307 Free article.

3

Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.

Lalatta F, Russo S, Gentilin B, Spaccini L, Boschetto C, Cavalleri F, Masciadri M, Gervasini C, Bentivegna A, Castronovo P, Larizza L. Lalatta F, et al. Among authors: gentilin b. Genet Med. 2007 Mar;9(3):188-94. doi: 10.1097/gim.0b013e31803183dd. Genet Med. 2007. PMID: 17413424

4

Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.

Gentilin B, Guerneri S, Bianchi V, Natacci F, Colombo A, Fogliani R, Fortuna R, Coviello DA, Curcio C, Lalatta F. Gentilin B, et al. Twin Res Hum Genet. 2008 Jun;11(3):352-6. doi: 10.1375/twin.11.3.352. Twin Res Hum Genet. 2008. PMID: 18498214 Review.

5

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F. Bedeschi MF, et al. Among authors: gentilin b. Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7. Orphanet J Rare Dis. 2011. PMID: 21356074 Free PMC article.

6

Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.

Maitz S, Gentilin B, Colli AM, Rizzuti T, Brandolisio E, Vetro A, Zuffardi O, Guerneri S, Lalatta F. Maitz S, et al. Among authors: gentilin b. Prenat Diagn. 2008 Oct;28(10):978-80. doi: 10.1002/pd.2110. Prenat Diagn. 2008. PMID: 18821718 No abstract available.

7

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

Natacci F, Alfei E, Tararà L, D'Arrigo S, Zuffardi O, Gentilin B, Pantaleoni C. Natacci F, et al. Among authors: gentilin b. Eur J Paediatr Neurol. 2016 Jan;20(1):183-7. doi: 10.1016/j.ejpn.2015.09.010. Epub 2015 Oct 22. Eur J Paediatr Neurol. 2016. PMID: 26565673

8

Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.

Lalatta F, Motta F, Restelli E, Bellini M, Miozzo M, Gervasini C, Dallapiccola B, Gentilin B, Fedele L. Lalatta F, et al. Among authors: gentilin b. Clin Dysmorphol. 2015 Jul;24(3):95-101. doi: 10.1097/MCD.0000000000000087. Clin Dysmorphol. 2015. PMID: 25968587

9

Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings.

Natacci F, Bianchi V, Guerneri S, Rizzuti T, Boito S, Gentilin B, Bedeschi MF, Lalatta F. Natacci F, et al. Among authors: gentilin b. Clin Dysmorphol. 2009 Jan;18(1):45-48. doi: 10.1097/MCD.0b013e328317c867. Clin Dysmorphol. 2009. PMID: 19050404 No abstract available.

10

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.

Lalatta F, Quagliarini D, Folliero E, Cavallari U, Gentilin B, Castorina P, Forzano F, Forzano S, Grosso E, Viassolo V, Naretto VG, Gattone S, Ceriani F, Faravelli F, Gargantini L. Lalatta F, et al. Among authors: gentilin b. Eur J Pediatr. 2010 Oct;169(10):1255-61. doi: 10.1007/s00431-010-1221-8. Epub 2010 May 15. Eur J Pediatr. 2010. PMID: 20473517

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