Saavedra D - Search Results

1

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.

Feldman GJ, Ward DE, Lajeunie-Renier E, Saavedra D, Robin NH, Proud V, Robb LJ, Der Kaloustian V, Carey JC, Cohen MM Jr, Cormier V, Munnich A, Zackai EH, Wilkie AO, Price RA, Muenke M. Feldman GJ, et al. Among authors: saavedra d. Hum Mol Genet. 1997 Oct;6(11):1937-41. doi: 10.1093/hmg/6.11.1937. Hum Mol Genet. 1997. PMID: 9302274

2

Additional EFNB1 mutations in craniofrontonasal syndrome.

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. Wallis D, et al. Among authors: saavedra d. Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388. Am J Med Genet A. 2008. PMID: 18627045 Free PMC article. No abstract available.

3

Craniofrontonasal syndrome: study of 41 patients.

Saavedra D, Richieri-Costa A, Guion-Almeida ML, Cohen MM Jr. Saavedra D, et al. Am J Med Genet. 1996 Jan 11;61(2):147-51. doi: 10.1002/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8669441

4

Cerebrofaciothoracic syndrome.

Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr. Guion-Almeida ML, et al. Among authors: saavedra d. Am J Med Genet. 1996 Jan 11;61(2):152-3. doi: 10.1002/(SICI)1096-8628(19960111)61:2<152::AID-AJMG9>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8669442

5

Hypertelorism: interorbital growth, measurements, and pathogenetic considerations.

Cohen MM Jr, Richieri-Costa A, Guion-Almeida ML, Saavedra D. Cohen MM Jr, et al. Among authors: saavedra d. Int J Oral Maxillofac Surg. 1995 Dec;24(6):387-95. doi: 10.1016/s0901-5027(05)80465-5. Int J Oral Maxillofac Surg. 1995. PMID: 8636632 Review.

6

Frontonasal dysplasia: analysis of 21 cases and literature review.

Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr. Guion-Almeida ML, et al. Among authors: saavedra d. Int J Oral Maxillofac Surg. 1996 Apr;25(2):91-7. doi: 10.1016/s0901-5027(96)80048-8. Int J Oral Maxillofac Surg. 1996. PMID: 8727576 Review.

7

Pseudohermaphroditism due to XY gonadal absence syndrome.

Alfaro SK, Saavedra D, Ochoa S, Scaglia H, Pérez-Palacios G. Alfaro SK, et al. Among authors: saavedra d. J Med Genet. 1976 Jun;13(3):242-6. doi: 10.1136/jmg.13.3.242. J Med Genet. 1976. PMID: 933126 Free PMC article.

8

Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness.

Pérez-Palacios G, Scaglia HE, Kofman-Alfaro S, Saavedra D, Ochoa S, Larraza O, Pérez AE. Pérez-Palacios G, et al. Among authors: saavedra d. Acta Endocrinol (Copenh). 1981 Sep;98(1):148-55. doi: 10.1530/acta.0.0980148. Acta Endocrinol (Copenh). 1981. PMID: 6792847

9

Inherited impairment of nuclear androgen uptake as a cause of familial androgen insensitivity.

Ulloa-Aguirre A, Chavez B, Mendez JP, Saavedra D, Perez-Palacios G. Ulloa-Aguirre A, et al. Among authors: saavedra d. Eur J Obstet Gynecol Reprod Biol. 1988 Aug;28(4):317-29. doi: 10.1016/0028-2243(88)90018-4. Eur J Obstet Gynecol Reprod Biol. 1988. PMID: 3139477

10

Fetal mortality in sibships with one or more affected members with oral clefts.

Mutchinick O, Lisker R, Babinsky V, Santos MA, Mejía F, Saavedra D, Villanueva C. Mutchinick O, et al. Among authors: saavedra d. Am J Med Genet. 1985 Feb;20(2):317-23. doi: 10.1002/ajmg.1320200215. Am J Med Genet. 1985. PMID: 3976724

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