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Results: 1 to 20 of 99

1.

Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.

Dessì A, Fanos V, Crisponi G, Frau A, Ottonello G.

J Obstet Gynaecol Res. 2012 Mar;38(3):582-5. doi: 10.1111/j.1447-0756.2011.01741.x. Epub 2012 Feb 16.

PMID:
22381110
[PubMed - indexed for MEDLINE]
2.

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.

Cosar H, Kahramaner Z, Erdemir A, Turkoglu E, Kanik A, Sutcuoglu S, Onay H, Alpman A, Ozkinay F, Ozer EA.

Clin Dysmorphol. 2011 Oct;20(4):187-9. doi: 10.1097/MCD.0b013e328348836c.

PMID:
21691203
[PubMed - indexed for MEDLINE]
3.

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.

Hakan N, Eminoglu FT, Aydin M, Zenciroglu A, Karadag NN, Dursun A, Okumus N, Ceylaner S.

Congenit Anom (Kyoto). 2012 Dec;52(4):216-8. doi: 10.1111/j.1741-4520.2012.00360.x.

PMID:
23181498
[PubMed - indexed for MEDLINE]
4.

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.

Uzunalic N, Zenciroglu A, Beken S, Piras R, Dilli D, Aydin B, Chiappe F, Okumus N, Crisponi L.

Genet Couns. 2013;24(2):161-6.

PMID:
24032286
[PubMed - indexed for MEDLINE]
5.

Are there febrile diseases with a risk of sudden death in children?

Rigante D.

Arch Dis Child. 2012 Feb;97(2):180. doi: 10.1136/archdischild-2011-301075. Epub 2011 Oct 27. No abstract available.

PMID:
22034495
[PubMed - indexed for MEDLINE]
6.

Prenatal diagnosis of cloverleaf skull: watch the hands!

Gorincour G, Rypens F, Grignon A, Garel L, Bortoluzzi P, Oligny L, Lemyre E, Duperron L.

Fetal Diagn Ther. 2005 Jul-Aug;20(4):296-300.

PMID:
15980644
[PubMed - indexed for MEDLINE]
7.

Crisponi syndrome: report of a further patient.

Accorsi P, Giordano L, Faravelli F.

Am J Med Genet A. 2003 Dec 1;123A(2):183-5.

PMID:
14598344
[PubMed - indexed for MEDLINE]
8.

Prenatal diagnosis of de Lange syndrome.

Ranzini AC, Day-Salvatore D, Farren-Chavez D, McLean DA, Greco R.

J Ultrasound Med. 1997 Nov;16(11):755-8. No abstract available.

PMID:
9360240
[PubMed - indexed for MEDLINE]
Free Article
9.

Ease and accuracy of evaluation of fetal hands during obstetrical ultrasonography: a prospective study.

Reiss RE, Foy PM, Mendiratta V, Kelly M, Gabbe SG.

J Ultrasound Med. 1995 Nov;14(11):813-20; quiz 821-2.

PMID:
8551546
[PubMed - indexed for MEDLINE]
Free Article
10.

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Herholz J, Meloni A, Marongiu M, Chiappe F, Deiana M, Herrero CR, Zampino G, Hamamy H, Zalloum Y, Waaler PE, Crisponi G, Crisponi L, Rutsch F.

Eur J Hum Genet. 2011 May;19(5):525-33. doi: 10.1038/ejhg.2010.253. Epub 2011 Feb 16.

PMID:
21326283
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis.

Arbués J, Galindo A, Puente JM, Vega MG, Hernández M, de la Fuente P.

J Matern Fetal Neonatal Med. 2005 Apr;17(4):299-301.

PMID:
16147841
[PubMed - indexed for MEDLINE]
12.

Prenatal diagnosis of distal arthrogryposis type 1.

Dudkiewicz I, Achiron R, Ganel A.

Skeletal Radiol. 1999 Apr;28(4):233-5.

PMID:
10384996
[PubMed - indexed for MEDLINE]
13.

A rare antenatally detected mass of the hand: tumour or congenital anomaly?

George UB, Varte N, Rathore S.

Pediatr Radiol. 2011 Jul;41(7):930-2. doi: 10.1007/s00247-010-1924-z. Epub 2011 Jan 1.

PMID:
21193907
[PubMed - indexed for MEDLINE]
14.

Amniotic band attachment to a fetal limb: demonstration with real-time sonography.

Laberge LC, Ruszkowski A, Morin F.

Ann Plast Surg. 1995 Sep;35(3):316-9.

PMID:
7503529
[PubMed - indexed for MEDLINE]
15.

Prenatal diagnosis of the split hand anomaly: how early is early?

Haratz-Rubinstein N, Yeh MN, Timor-Tritsch IE, Monteagudo A.

Ultrasound Obstet Gynecol. 1996 Jul;8(1):57-61. Review.

PMID:
8843622
[PubMed - indexed for MEDLINE]
Free Article
16.

Prenatal sonographic diagnosis of Aarskog syndrome.

Sepulveda W, Dezerega V, Horvath E, Aracena M.

J Ultrasound Med. 1999 Oct;18(10):707-10.

PMID:
10511304
[PubMed - indexed for MEDLINE]
Free Article
17.

Split hand and foot malformation: ultrasound detection in the first trimester.

Lapaire O, Schiesser M, Peukert R, Holzgreve W, Tercanli S.

Ultrasound Obstet Gynecol. 2002 Nov;20(5):511-2.

PMID:
12423492
[PubMed - indexed for MEDLINE]
Free Article
18.

Prenatal diagnosis of Freeman-Sheldon syndrome (whistling face).

Robbins-Furman P, Hecht JT, Rocklin M, Maklad N, Greenhaw G, Wilkins I.

Prenat Diagn. 1995 Feb;15(2):179-82.

PMID:
7784371
[PubMed - indexed for MEDLINE]
19.

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.

Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC.

Am J Med Genet A. 2005 Feb 15;133A(1):90-2. Review.

PMID:
15637710
[PubMed - indexed for MEDLINE]
20.

Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome.

Bronshtein M, Gershoni-Baruch R.

Prenat Diagn. 1993 Jun;13(6):519-22.

PMID:
8372078
[PubMed - indexed for MEDLINE]

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