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Results: 1 to 20 of 100

1.

Confirmation of Nablus mask-like facial syndrome.

Salpietro CD, Briuglia S, Rigoli L, Merlino MV, Dallapiccola B.

Am J Med Genet A. 2003 Sep 1;121A(3):283-5. No abstract available.

PMID:
12923873
[PubMed - indexed for MEDLINE]
2.

Nablus mask-like facial syndrome.

Teebi AS.

Am J Med Genet. 2000 Dec 11;95(4):407-8. No abstract available.

PMID:
11186902
[PubMed - indexed for MEDLINE]
3.

Nablus mask-like facial syndrome.

Allanson J.

Am J Med Genet. 2001 Aug 1;102(2):212-3; author reply 214. No abstract available.

PMID:
11477618
[PubMed - indexed for MEDLINE]
4.

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Review.

PMID:
19328248
[PubMed - indexed for MEDLINE]
5.

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE.

Am J Med Genet A. 2006 Jun 15;140(12):1267-73.

PMID:
16691576
[PubMed - indexed for MEDLINE]
6.

Laryngeal mask airway and the Robinow syndrome.

Weksler N, Schwartz A, Klein M, Rozentsveig V, Weksler D, Gurman GM.

Minerva Anestesiol. 2006 Jan-Feb;72(1-2):81-3.

PMID:
16407809
[PubMed - indexed for MEDLINE]
Free Article
7.

Facial abnormalities in nablus mask-like facial syndrome: multidetector computed tomography findings.

Mazziotti S, D'Angelo T, Ascenti G, Blandino A.

J Oral Maxillofac Surg. 2014 Aug;72(8):1579-84. doi: 10.1016/j.joms.2014.01.013. Epub 2014 Jan 23.

PMID:
24815794
[PubMed - in process]
8.

Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.

Keppler-Noreuil K, Welch J, Baker-Lange K.

Am J Med Genet A. 2007 Nov 1;143A(21):2581-7.

PMID:
17935251
[PubMed - indexed for MEDLINE]
9.

Femoral facial syndrome with bilateral agenesis of femora and preaxial polydactyly of the feet in a Chinese stillborn.

Poon WL, Yuen MK, Ng SK, Leung YM.

Clin Imaging. 2006 Sep-Oct;30(5):357-60.

PMID:
16919561
[PubMed - indexed for MEDLINE]
10.

Femoral-facial syndrome with hemifacial microsomia and hypoglossia.

Düzcan F, Ergin H, Perçin EF, Tepeli E, Erkula G.

Clin Dysmorphol. 2004 Jan;13(1):43-4.

PMID:
15127766
[PubMed - indexed for MEDLINE]
11.

Roberts syndrome: facial dysmorphology in a mildly affected case.

Ahmed AA, Imrie S, Duncan R, Tolmie J.

Clin Dysmorphol. 2009 Oct;18(4):236-7. doi: 10.1097/MCD.0b013e328330209b. No abstract available.

PMID:
19707122
[PubMed - indexed for MEDLINE]
12.

Anotia and facial palsy: unusual features of cardiofacial syndrome.

Girisha KM, Phadke SR.

Indian J Pediatr. 2005 Jun;72(6):525-6.

PMID:
15985743
[PubMed - indexed for MEDLINE]
13.

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

Goossens L, Janssens S, Meersschaut V, Peeters H, Devlieger H, Devriendt K.

Clin Dysmorphol. 2006 Apr;15(2):71-4.

PMID:
16531731
[PubMed - indexed for MEDLINE]
14.

Oral features in Kabuki make-up Syndrome.

Spano G, Campus G, Bortone A, Lai V, Lugliè PF.

Eur J Paediatr Dent. 2008 Sep;9(3):149-52.

PMID:
18844445
[PubMed - indexed for MEDLINE]
15.

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

Horn D, Weschke B, Zweier C, Rauch A.

Am J Med Genet A. 2004 Jan 1;124A(1):102-4. No abstract available.

PMID:
14679597
[PubMed - indexed for MEDLINE]
16.

Female counterpart of shawl scrotum in Aarskog-Scott syndrome.

Moraes SG, Guerra-Junior G, Maciel-Guerra AT.

Int Braz J Urol. 2006 Jul-Aug;32(4):459-61.

PMID:
16953916
[PubMed - indexed for MEDLINE]
Free Article
17.

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A.

J Med Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26.

PMID:
18728071
[PubMed - indexed for MEDLINE]
18.

A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability.

Mingarelli R, Zuccarello D, Digilio MC, Dallapiccola B.

Am J Med Genet A. 2005 Jul 1;136(1):84-6. Review.

PMID:
15937946
[PubMed - indexed for MEDLINE]
19.

[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].

Imamura Y, Fujikawa Y, Komaki H, Nakagawa E, Sugai K, Sato N, Sasaki M.

No To Hattatsu. 2007 Jan;39(1):59-62. Japanese.

PMID:
17228821
[PubMed - indexed for MEDLINE]
20.

[Ciliary hypertrichosis and facial dysmorphia associated with diffuse, congenital hypertrichosis: Ambras syndrome?].

Boui M, Ghfir M, Sedrati O.

Ann Dermatol Venereol. 2009 May;136(5):481-2. doi: 10.1016/j.annder.2008.11.019. Epub 2009 Apr 8. French. No abstract available.

PMID:
19442813
[PubMed - indexed for MEDLINE]

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