Marini R - Search Results

1

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.

Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G. Zollino M, et al. Among authors: marini r. Am J Med Genet. 1994 Sep 1;52(3):302-7. doi: 10.1002/ajmg.1320520310. Am J Med Genet. 1994. PMID: 7810561

2

The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

Cappa M, Borrelli P, Marini R, Neri G. Cappa M, et al. Among authors: marini r. Am J Med Genet. 1987 Oct;28(2):303-9. doi: 10.1002/ajmg.1320280207. Am J Med Genet. 1987. PMID: 2827473

3

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

Neri G, Marini R, Cappa M, Borrelli P, Opitz JM. Neri G, et al. Among authors: marini r. Am J Med Genet. 1988 May-Jun;30(1-2):287-99. doi: 10.1002/ajmg.1320300130. Am J Med Genet. 1988. PMID: 3177455

4

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

Neri G, Marini R, Cappa M, Borrelli P, Opitz JM. Neri G, et al. Among authors: marini r. Am J Med Genet A. 2013 Nov;161A(11):2697-703. doi: 10.1002/ajmg.a.36317. Am J Med Genet A. 2013. PMID: 24166811

5

Cutis verticis gyrata and chromosomal abnormalities.

Marini R, Cappa M, Neri G. Marini R, et al. Am J Dis Child. 1989 Mar;143(3):269-70. Am J Dis Child. 1989. PMID: 2916502 No abstract available.

6

Final height after growth hormone therapy in non-growth-hormone-deficient children with short stature.

Loche S, Cambiaso P, Setzu S, Carta D, Marini R, Borrelli P, Cappa M. Loche S, et al. Among authors: marini r. J Pediatr. 1994 Aug;125(2):196-200. doi: 10.1016/s0022-3476(94)70192-x. J Pediatr. 1994. PMID: 8040761 Clinical Trial.

7

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Niceta M, et al. Among authors: marini r. BMC Pediatr. 2020 Mar 12;20(1):120. doi: 10.1186/s12887-020-2019-0. BMC Pediatr. 2020. PMID: 32164589 Free PMC article. Review.

8

Partially reversible hypopituitarism in an adolescent with a rathke cleft cyst.

Bizzarri C, Marini R, Ubertini G, Cappa M. Bizzarri C, et al. Among authors: marini r. Clin Pediatr Endocrinol. 2012 Oct;21(4):75-80. doi: 10.1297/cpe.21.75. Epub 2012 Oct 30. Clin Pediatr Endocrinol. 2012. PMID: 23926414 Free PMC article.

9

Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

Bizzarri C, Olivini N, Pedicelli S, Marini R, Giannone G, Cambiaso P, Cappa M. Bizzarri C, et al. Among authors: marini r. Ital J Pediatr. 2016 Aug 2;42(1):73. doi: 10.1186/s13052-016-0282-3. Ital J Pediatr. 2016. PMID: 27485500 Free PMC article.

10

Growth hormone response to growth hormone releasing hormone 1-40 in Turner's syndrome.

Cappa M, Loche S, Borrelli P, Corda R, Marini R, Porcedda C, Pintor C. Cappa M, et al. Among authors: marini r. Horm Res. 1987;27(1):1-6. doi: 10.1159/000180770. Horm Res. 1987. PMID: 3114115

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