Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

44 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P. Romanelli V, et al. Among authors: gracia bouthelier r. Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248736 Free PMC article.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Romanelli V, et al. Among authors: gracia bouthelier r. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Am J Med Genet A. 2010. PMID: 20503313 Review.
Follow-up and risk of tumors in overgrowth syndromes.
Gracia Bouthelier R, Lapunzina P. Gracia Bouthelier R, et al. J Pediatr Endocrinol Metab. 2005 Dec;18 Suppl 1:1227-35. doi: 10.1515/jpem.2005.18.s1.1227. J Pediatr Endocrinol Metab. 2005. PMID: 16398453 Review.
Germinal mosaicism in Simpson-Golabi-Behmel syndrome.
Romanelli V, Arroyo I, Rodriguez JI, Magano L, Arias P, Incera I, Gracia-Bouthelier R, Lapunzina P. Romanelli V, et al. Clin Genet. 2007 Oct;72(4):384-6. doi: 10.1111/j.1399-0004.2007.00871.x. Clin Genet. 2007. PMID: 17850639 No abstract available.
[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.
[Hypoglycaemia due to persistent hyperinsulinism in a patient with Sotos syndrome].
González Casado I, De la PuenteArévalo A, López Moreira O, Lapunzina P, Gracia Bouthelier R. González Casado I, et al. Among authors: gracia bouthelier r. An Pediatr (Barc). 2012 Apr;76(4):232-4. doi: 10.1016/j.anpedi.2011.11.004. Epub 2011 Dec 27. An Pediatr (Barc). 2012. PMID: 22206879 Free article. Spanish. No abstract available.
[Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?].
Climent Alcalá FJ, Molina Rodríguez MA, González Casado I, Osona Bris L, Salamanca Fresno L, Guerrero-Fernández J, Martínez-Frías ML, Gracia Bouthelier R. Climent Alcalá FJ, et al. An Pediatr (Barc). 2010 Mar;72(3):210-4. doi: 10.1016/j.anpedi.2009.10.018. Epub 2010 Feb 6. An Pediatr (Barc). 2010. PMID: 20138017 Free article. Spanish.
[Growth hormone treatment of short colon syndrome].
González Ipiña M, González Casado I, Martín Delgado MI, Lassaletta Garbayo L, Gracia Bouthelier R. González Ipiña M, et al. An Esp Pediatr. 1998 Feb;48(2):178-80. An Esp Pediatr. 1998. PMID: 9580514 Spanish. No abstract available.
44 results