Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 99

1.

A patient with the Weaver syndrome in Puerto Rico: a case report.

Toledo A, Acevedo-Hernández A, ViIlegas VM, Izquierdo NJ.

Bol Asoc Med P R. 2012 Jan-Mar;104(1):43-5.

PMID:
22788078
2.

Weaver syndrome and defective cortical development: a rare association.

Al-Salem A, Alshammari MJ, Hassan H, Alazami AM, Alkuraya FS.

Am J Med Genet A. 2013 Jan;161A(1):225-7. doi: 10.1002/ajmg.a.35660. Epub 2012 Dec 13. No abstract available.

PMID:
23239504
3.

A novel mutation in EED associated with overgrowth.

Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT.

J Hum Genet. 2015 Jun;60(6):339-42. doi: 10.1038/jhg.2015.26. Epub 2015 Mar 19.

PMID:
25787343
4.

Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Chacon-Camacho OF, Vázquez J, Zenteno JC.

Am J Med Genet A. 2011 Jul;155A(7):1716-20. doi: 10.1002/ajmg.a.34030. Epub 2011 May 27.

PMID:
21626675
5.

A further patient with van Maldergem syndrome.

Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.

Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13.

PMID:
22469822
6.

Zimmermann-Laband syndrome: a case report.

Sawaki K, Mishima K, Sato A, Goda Y, Osugi A, Nakano M.

J Clin Pediatr Dent. 2012 Spring;36(3):297-300.

PMID:
22838235
7.

Overgrowth syndromes.

Neylon OM, Werther GA, Sabin MA.

Curr Opin Pediatr. 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995. Review.

PMID:
22705997
8.

Treatment of macroglossia in a child with Weaver syndrome.

Iatrou IA, Schoinohoriti OK, Tzerbos F, Pasparakis D.

Int J Oral Maxillofac Surg. 2008 Oct;37(10):961-5. doi: 10.1016/j.ijom.2008.05.008. Epub 2008 Jul 2.

PMID:
18595662
9.

The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.

Dimitrov B, Balikova I, Bradinova I, Zahariev D, Popova A, Simeonov E, De Smet L, Devriendt K, Fryns JP.

Genet Couns. 2005;16(2):181-6. No abstract available.

PMID:
16080300
10.

Terminal 2q37 deletion and autistic behaviour.

Lukusa T, Smeets E, Vogels A, Vermeesch JR, Fryns JP.

Genet Couns. 2005;16(2):179-80. No abstract available.

PMID:
16080299
11.

The clinical atlas of Greig cephalopolysyndactyly syndrome.

Balk K, Biesecker LG.

Am J Med Genet A. 2008 Mar 1;146A(5):548-57. doi: 10.1002/ajmg.a.32167.

PMID:
18241058
12.

Moore-Federman syndrome and acromicric dysplasia: are they the same entity?

Winter RM, Patton MA, Challener J, Mueller RF, Baraitser M.

J Med Genet. 1989 May;26(5):320-5.

13.

Hand anomalies in Russell Silver syndrome.

Lahiri A, Lester R.

J Plast Reconstr Aesthet Surg. 2009 Apr;62(4):462-5. doi: 10.1016/j.bjps.2007.11.036. Epub 2008 Jan 2.

PMID:
18171637
14.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

15.

Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.

Ko JM, Lim BC, Kim KJ, Hwang YS, Ryu HW, Lee JH, Kim JS, Chae JH.

Childs Nerv Syst. 2013 Apr;29(4):525-9. doi: 10.1007/s00381-013-2047-2. Epub 2013 Feb 12.

PMID:
23400866
16.

Wide clinical spectrum in Zimmermann-Laband syndrome.

Davalos IP, Brambila-Tapia AJ, Dávalos NO, Durán-González J, González-Mercado MG, Cruz-Ramos JA, Ríos-González BE, E'vega R, Zavala-Cerna MG, García-Cruz MO, García-cruz D.

Genet Couns. 2011;22(1):1-10.

PMID:
21614982
17.

Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT.

Am J Med Genet A. 2008 Jun 15;146A(12):1571-4. doi: 10.1002/ajmg.a.32096.

PMID:
18470891
18.

Novel findings in a patient with Weaver or a Weaver-like syndrome.

Scarano G, Della Monica M, Lonardo F, Neri G.

Am J Med Genet. 1996 May 17;63(2):378-81.

PMID:
8725789
19.

Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome.

Hershkovitz E, Hershkovitz R, Hertzug L, Gorodischer R, Mazor M, Parvari R.

Prenat Diagn. 2000 Jun;20(6):475-7.

PMID:
10861712
20.

[Weaver syndrome. 1st case reported in Venezuela].

Sánchez O, Boufajreldin S, Oranges C, Orta C, Guerra D.

Invest Clin. 1997 Mar;38(1):9-24. Review. Spanish.

PMID:
9235073

Supplemental Content

Support Center