Lapunzina P - Search Results

1

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: lapunzina p. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.

2

Rothmund-Thomson syndrome and Addison disease.

Lapunzina P, Fonseca E, Gracia R, Delicado A. Lapunzina P, et al. Pediatr Dermatol. 1995 Jun;12(2):164-9. doi: 10.1111/j.1525-1470.1995.tb00146.x. Pediatr Dermatol. 1995. PMID: 7659645

3

Mulibrey nanism: three additional patients and a review of 39 patients.

Lapunzina P, Rodríguez JI, de Matteo E, Gracia R, Moreno F. Lapunzina P, et al. Am J Med Genet. 1995 Jan 30;55(3):349-55. doi: 10.1002/ajmg.1320550320. Am J Med Genet. 1995. PMID: 7726235

4

[Crouzon's syndrome with acanthosis nigricans].

Lapunzina P, Fernández MC, Varela Junquera JM, Arberas C, Tello AM, Gracia Bouthelier R. Lapunzina P, et al. An Esp Pediatr. 2002 Apr;56(4):342-6. An Esp Pediatr. 2002. PMID: 11927079 Spanish.

5

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. 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

6

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Ruiz-Perez VL, et al. Among authors: lapunzina p. Am J Hum Genet. 2003 Mar;72(3):728-32. doi: 10.1086/368063. Epub 2003 Feb 4. Am J Hum Genet. 2003. PMID: 12571802 Free PMC article.

7

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. Mol Diagn. 2003;7(2):125-8. doi: 10.1007/BF03260028. Mol Diagn. 2003. PMID: 14580232

8

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: lapunzina p. 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

9

Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

Lapunzina P, Gairí A, Delicado A, Mori MA, Torres ML, Goma A, Navia M, Pajares IL. Lapunzina P, et al. Am J Med Genet A. 2004 Sep 15;130A(1):45-51. doi: 10.1002/ajmg.a.30235. Am J Med Genet A. 2004. PMID: 15368495 Review.

10

Craniofacial dyssynostosis: description of the first four Spanish cases and review.

Bermejo E, Félix V, Lapunzina P, Galán E, Soler V, Delicado A, Pantoja A, Márquez MD, García M, Mora E, Cuevas L, Ureta A, López-Pajares I, Martínez-Frías ML. Bermejo E, et al. Among authors: lapunzina p. Am J Med Genet A. 2005 Jan 1;132A(1):41-8. doi: 10.1002/ajmg.a.30380. Am J Med Genet A. 2005. PMID: 15551327 Review.

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