Lapunzina P - Search Results

1

Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex.

Ignacio Rodríguez J, Palacios J, Lapunzina P. Ignacio Rodríguez J, et al. Among authors: lapunzina p. Am J Med Genet. 1993 Aug 1;47(1):69-74. doi: 10.1002/ajmg.1320470115. Am J Med Genet. 1993. PMID: 8368256

2

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?

Lapunzina P, Musante G, Pedraza A, Prudent L, Gadow E. Lapunzina P, et al. Am J Med Genet. 2001 Aug 15;102(3):258-60. doi: 10.1002/ajmg.1467. Am J Med Genet. 2001. PMID: 11484203

3

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

4

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.

5

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

6

Risk of tumorigenesis in overgrowth syndromes: a comprehensive review.

Lapunzina P. Lapunzina P. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):53-71. doi: 10.1002/ajmg.c.30064. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010678 Review.

7

Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.

Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Mariño-Enríquez A, et al. Among authors: lapunzina p. Am J Med Genet A. 2007 May 15;143A(10):1120-5. doi: 10.1002/ajmg.a.31696. Am J Med Genet A. 2007. PMID: 17431908

8

Sotos syndrome is associated with leukemia/lymphoma.

Martínez-Glez V, Lapunzina P. Martínez-Glez V, et al. Among authors: lapunzina p. Am J Med Genet A. 2007 Jun 1;143A(11):1244-5. doi: 10.1002/ajmg.a.31727. Am J Med Genet A. 2007. PMID: 17480008 No abstract available.

9

Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.

López-Gutiérrez JC, Lapunzina P. López-Gutiérrez JC, et al. Among authors: lapunzina p. Am J Med Genet A. 2008 Oct 15;146A(20):2583-8. doi: 10.1002/ajmg.a.32517. Am J Med Genet A. 2008. PMID: 18798326

10

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

Barraza-García J, Iván Rivera-Pedroza C, Salamanca L, Belinchón A, López-González V, Sentchordi-Montané L, del Pozo Á, Santos-Simarro F, Campos-Barros Á, Lapunzina P, Guillén-Navarro E, González-Casado I, García-Miñaur S, Heath KE. Barraza-García J, et al. Among authors: lapunzina p. Am J Med Genet A. 2016 Jan;170A(1):210-6. doi: 10.1002/ajmg.a.37393. Epub 2015 Sep 16. Am J Med Genet A. 2016. PMID: 26374189

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