Francomano CA - Search Results

1

Sleep-disordered breathing in children with achondroplasia.

Mogayzel PJ Jr, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL. Mogayzel PJ Jr, et al. Among authors: francomano ca. J Pediatr. 1998 Apr;132(4):667-71. doi: 10.1016/s0022-3476(98)70358-0. J Pediatr. 1998. PMID: 9580768 Free article.

2

Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia.

Aryanpur J, Hurko O, Francomano C, Wang H, Carson B. Aryanpur J, et al. J Neurosurg. 1990 Sep;73(3):375-82. doi: 10.3171/jns.1990.73.3.0375. J Neurosurg. 1990. PMID: 2384775

3

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.

Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Am J Med Genet. 1999 Jul 2;85(1):53-65. Am J Med Genet. 1999. PMID: 10377013

4

Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.

Hamosh A, McDonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV. Hamosh A, et al. Among authors: francomano ca. J Pediatr. 1992 Jul;121(1):131-5. doi: 10.1016/s0022-3476(05)82559-4. J Pediatr. 1992. PMID: 1385627 Free article.

5

Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

Bartholomew DW, Batshaw ML, Allen RH, Roe CR, Rosenblatt D, Valle DL, Francomano CA. Bartholomew DW, et al. Among authors: francomano ca. J Pediatr. 1988 Jan;112(1):32-9. doi: 10.1016/s0022-3476(88)80114-8. J Pediatr. 1988. PMID: 3257264 Free article.

6

Living with achondroplasia: quality of life evaluation following cervico-medullary decompression.

Ho NC, Guarnieri M, Brant LJ, Park SS, Sun B, North M, Francomano CA, Carson BS. Ho NC, et al. Among authors: francomano ca. Am J Med Genet A. 2004 Dec 1;131(2):163-7. doi: 10.1002/ajmg.a.30342. Am J Med Genet A. 2004. PMID: 15487008

7

Molecular genetic studies in achondroplasia.

Francomano CA, Le PL, Pyeritz RE. Francomano CA, et al. Basic Life Sci. 1988;48:53-8. doi: 10.1007/978-1-4684-8712-1_7. Basic Life Sci. 1988. PMID: 2907290 No abstract available.

8

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. Francomano CA, et al. Hum Mol Genet. 1994 May;3(5):787-92. doi: 10.1093/hmg/3.5.787. Hum Mol Genet. 1994. PMID: 8081365

9

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.

10

Achondroplasia is not caused by mutation in the gene for type II collagen.

Francomano CA, Pyeritz RE. Francomano CA, et al. Am J Med Genet. 1988 Apr;29(4):955-61. doi: 10.1002/ajmg.1320290433. Am J Med Genet. 1988. PMID: 2899976

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