Lapunzina P - Search Results

1

Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.

Parra A, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, San-Martín EA, Silván C, Santos-Simarro F; Spanish OverGrowth Registry Initiative (SOGRI); Nevado J, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: lapunzina p. Clin Genet. 2024 Feb;105(2):140-149. doi: 10.1111/cge.14440. Epub 2023 Oct 30. Clin Genet. 2024. PMID: 37904618

2

Diastrophic dysplasia diagnosed in a case published 100 years ago.

Lapunzina P, Arberas C, Fernandez MC, Tello AM. Lapunzina P, et al. Am J Med Genet. 1998 May 26;77(4):334-6. Am J Med Genet. 1998. PMID: 9600747 No abstract available.

3

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 Free article.

4

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: lapunzina p. 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

5

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

6

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

7

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.

8

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.

9

A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail.

Lapunzina P, Fernández A, Sánchez Romero JM, Delicado A, Sáenz de Pipaon M, López Pajares I, Molano J. Lapunzina P, et al. Birth Defects Res A Clin Mol Teratol. 2005 Jan;73(1):61-4. doi: 10.1002/bdra.20093. Birth Defects Res A Clin Mol Teratol. 2005. PMID: 15602758

10

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.

Fernández L, Lapunzina P, Pajares IL, Criado GR, García-Guereta L, Pérez J, Quero J, Delicado A. Fernández L, et al. Among authors: lapunzina p. Am J Med Genet A. 2005 Jul 1;136(1):71-5. doi: 10.1002/ajmg.a.30756. Am J Med Genet A. 2005. PMID: 15889418

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