Hernando I - Search Results

1

PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome.

Coto E, Toral JF, Menéndez MJ, Hernando I, Plasencia A, Benavides A, López-Larrea C. Coto E, et al. Among authors: hernando i. Am J Med Genet. 1995 Jul 3;57(3):393-6. doi: 10.1002/ajmg.1320570305. Am J Med Genet. 1995. PMID: 7677140

2

[Cystic fibrosis in Asturias: an elevated frequency of the delta F508 mutation].

Coto E, Bousoño C, Menéndez MJ, Cue R, Toral JF, Benavides A, Hernando I, Plasencia A, López-Larrea C. Coto E, et al. Among authors: hernando i. Med Clin (Barc). 1994 Nov 26;103(18):681-3. Med Clin (Barc). 1994. PMID: 7808073 Spanish.

3

[Diagnosis of dominant renal polycystosis in adults by analysis of DNA polymorphism].

Coto E, Aguado S, Alvarez J, Sanz de Castro S, Arias M, Fernández Toral J, Benavides A, Hernando I, Plasencia A, Herrera J, et al. Coto E, et al. Among authors: hernando i. Med Clin (Barc). 1992 Mar 21;98(11):409-12. Med Clin (Barc). 1992. PMID: 1349048 Spanish.

4

A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.

Tavira B, Gómez J, Málaga S, Santos F, Fernández-Aracama J, Alonso B, Iglesias S, Benavides A, Hernando I, Plasencia A, Alvarez V, Coto E. Tavira B, et al. Among authors: hernando i. Gene. 2015 Apr 25;561(1):165-9. doi: 10.1016/j.gene.2015.02.040. Epub 2015 Feb 17. Gene. 2015. PMID: 25701400

5

[Basan's syndrome: dominant autosomal hypohidrotic ectodermal dysplasia].

Hernando I, Benavides A, Plasencia A, Visus EP, Bousoño C, Fernández Toral J. Hernando I, et al. An Esp Pediatr. 1988 Apr;28(4):359-60. An Esp Pediatr. 1988. PMID: 3400948 Spanish. No abstract available.

6

[Amniotic band syndrome and a 47, XYY karyotype].

Hernando I, Plasencia A, Peña E, Fernández Pérez M, Benavides A, Rodríguez de la Rúa MV, Fernández Toral J. Hernando I, et al. An Esp Pediatr. 1987 Jul;27(1):75-6. An Esp Pediatr. 1987. PMID: 3662260 Spanish. No abstract available.

7

[Huntington chorea: clniical and molecular analysis in Asturian patients].

Hernando I, Alvarez V, García Martínez A, Salas Puig J, Fernández Uría D, Martínez C, Vidal Sánchez JA, Lahoz C, Coto E. Hernando I, et al. Neurologia. 1999 Jan;14(1):11-5. Neurologia. 1999. PMID: 10079686 Spanish.

8

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.

Lorca R, Pannone L, Cuesta-Llavona E, Bocchinfuso G, Rodríguez-Reguero J, Carpentieri G, Hernando I, Flex E, Tartaglia M, Coto E, Gómez J, Martinelli S. Lorca R, et al. Among authors: hernando i. Clin Genet. 2021 Mar;99(3):457-461. doi: 10.1111/cge.13904. Epub 2021 Jan 4. Clin Genet. 2021. PMID: 33354767

9

[National program of prenatal diagnosis].

Benavides A, Llavero J, Hernando I. Benavides A, et al. Among authors: hernando i. An Esp Pediatr. 1988 Sep;29 Suppl 33:192-4. An Esp Pediatr. 1988. PMID: 3250290 Spanish. No abstract available.

10

[Mental retardation and X chromosome fragility].

Rodríguez de la Rúa V, Alvárez García F, Hernando I, Benavides A, Coto GD, de Juan J, Fernández Toral J. Rodríguez de la Rúa V, et al. Among authors: hernando i. An Esp Pediatr. 1986 Nov;25(5):329-34. An Esp Pediatr. 1986. PMID: 3813225 Spanish.

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