de Torres ML - Search Results

1

Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review.

Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, López Pajares I. Zumel RM, et al. Among authors: de torres ml. Ann Genet. 1989;32(4):247-9. Ann Genet. 1989. PMID: 2610493

2

The 18p- syndrome. Report of five cases.

Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, de Torres ML, López-Pájares I. Zumel RM, et al. Among authors: de torres ml. Ann Genet. 1989;32(3):160-3. Ann Genet. 1989. PMID: 2817777

3

Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome.

Diaz de Bustamante A, Delicado A, Garcia de Miguel P, Darnaude MT, de Torres ML, Zumel RM, Lopez Pajares I. Diaz de Bustamante A, et al. Among authors: de torres ml. Cancer Genet Cytogenet. 1990 Mar;45(1):35-9. doi: 10.1016/0165-4608(90)90063-g. Cancer Genet Cytogenet. 1990. PMID: 2154323

4

Euchromatic variant 16p+. Implications in prenatal diagnosis.

López Pajares I, Villa O, Salido M, Mori MA, Gonzalez A, Lapunzina P, De Torres ML, Vallcorba I, Palomares M, Fernández L, Delicado A. López Pajares I, et al. Among authors: de torres ml. Prenat Diagn. 2006 Jun;26(6):535-8. doi: 10.1002/pd.1454. Prenat Diagn. 2006. PMID: 16634122

5

Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.

López-Pajares I, Delicado A, Lapunzina P, Mori MA, De Torres ML, Aso S, Garcia Sanchez P. López-Pajares I, et al. Among authors: de torres ml. Am J Med Genet A. 2003 May 1;118A(4):353-7. doi: 10.1002/ajmg.a.10988. Am J Med Genet A. 2003. PMID: 12687667

6

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.

Lapunzina P, Delicado A, de Torres ML, Mor MA, Pérez-Pacheco RF, Lópes PI. Lapunzina P, et al. Among authors: de torres ml. J Matern Fetal Neonatal Med. 2002 Jul;12(1):64-6. doi: 10.1080/jmf.12.1.64.66. J Matern Fetal Neonatal Med. 2002. PMID: 12422912

7

A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findings.

Mori MA, Lapunzina P, Delicado A, Núñez G, Rodríguez JI, de Torres ML, Herrero F, Valverde E, López-Pajares I. Mori MA, et al. Among authors: de torres ml. Am J Med Genet A. 2004 May 15;127A(1):69-73. doi: 10.1002/ajmg.a.20622. Am J Med Genet A. 2004. PMID: 15103721

8

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

Delicado A, Fernández L, de Torres ML, Nevado J, García-Santiago FA, Rodríguez R, Mansilla E, Palomares M, Santos-Simarro F, Vallespín E, Mori MÁ, Lapunzina P. Delicado A, et al. Among authors: de torres ml. BMC Med Genet. 2014 Oct 29;15:116. doi: 10.1186/s12881-014-0116-3. BMC Med Genet. 2014. PMID: 25358766 Free PMC article.

9

Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.

Lapunzina P, Sánchez JM, Cabrera M, Moreno A, Delicado A, de Torres ML, Mori AM, Quero J, Lopez Pajares I. Lapunzina P, et al. Among authors: de torres ml. Mol Diagn. 2003;7(2):125-8. doi: 10.1007/BF03260028. Mol Diagn. 2003. PMID: 14580232

10

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

Fernández L, Nevado J, De Torres ML, Mansilla E, Vallespín E, García-Miñaúr S, Palomo R, Deirós L, Cabrera M, Galo ED, Lapunzina P, Delicado A. Fernández L, et al. Among authors: de torres ml. Am J Med Genet A. 2012 Nov;158A(11):2963-8. doi: 10.1002/ajmg.a.35595. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987734 No abstract available.

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