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Items: 1 to 20 of 202

1.

Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome.

Patel JS, Maher ER, Charles AK.

Clin Dysmorphol. 1997 Jul;6(3):267-72.

PMID:
9220199
2.

Fraser syndrome.

Ozgünen T, Evrüke C, Kadayifçi O, Demir C, Aridoğan N, Vardar MA.

Int J Gynaecol Obstet. 1995 May;49(2):187-9.

PMID:
7649327
3.

Focal dermal hypoplasia (Goltz syndrome).

Riyaz N, Riyaz A, Chandran R, Rakesh SV.

Indian J Dermatol Venereol Leprol. 2005 Jul-Aug;71(4):279-81.

4.

Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia.

Hatem E, Meriam BR, Walid D, Adenen M, Moez G, Ali S.

Prenat Diagn. 2007 May;27(5):471-4.

PMID:
17380471
5.

Truncus arteriosus and other lethal internal anomalies in Goltz syndrome.

Han XY, Wu SS, Conway DH, Pawel BR, Punnett HH, Martin RA, de Chadarevian JP.

Am J Med Genet. 2000 Jan 3;90(1):45-8.

PMID:
10602117
6.

[Goltz syndrome - a case report].

Alberth M, Török J, Nemes J.

Fogorv Sz. 2001 Apr;94(2):59-62. Hungarian.

PMID:
11367597
7.

Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W.

Clin Genet. 1990 Feb;37(2):84-96.

PMID:
2155726
8.

Two fetuses with Fryns syndrome without diaphragmatic defects.

Wilgenbus KK, Engers R, Crombach G, Majewski F.

J Med Genet. 1994 Dec;31(12):962-4.

9.

Focal dermal hypoplasia. Goltz syndrome. A case report.

Adornato MC, Perras S, Penna KJ.

N Y State Dent J. 2001 Jan;67(1):30-2.

PMID:
11221530
10.

[Goltz-Gorlin syndrome in a male].

Reber T, Wolters T, Goos M.

Hautarzt. 1987 Apr;38(4):218-23. German.

PMID:
3597088
11.

A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth.

Dias C, Basto J, Pinho O, Barbêdo C, Mártins M, Bornholdt D, Fortuna A, Grzeschik KH, Lima M.

Fetal Pediatr Pathol. 2010;29(5):305-13. doi: 10.3109/15513811003796912.

PMID:
20704476
12.

Erythematous atrophic macules and papules following the lines of Blaschko. Focal dermal hypoplasia (FDH), or Goltz syndrome.

Quain RD, Militello G, Junkins-Hopkins J, Yan AC, Crawford GH.

Arch Dermatol. 2007 Jan;143(1):109-14. No abstract available.

PMID:
17224552
13.

Do you know this syndrome?

Urbano LM, Leal II, Costa IM.

An Bras Dermatol. 2011 Mar-Apr;86(2):391. English, Portuguese.

14.

Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome.

Mengshol SC, Ornvold K.

Arch Pathol Lab Med. 2003 Nov;127(11):e425-6. No abstract available.

PMID:
14567736
15.

A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS.

Fryssira H, Papathanassiou M, Barbounaki J, Orfanou I, Lagona E, Paikos P.

Clin Dysmorphol. 2002 Oct;11(4):277-81.

PMID:
12401994
16.

The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.

Tolmie JL, Mortimer G, Doyle D, McKenzie R, McLaurin J, Neilson JP.

Am J Med Genet. 1987 May;27(1):175-82.

PMID:
3300330
17.

A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient.

Lasocki AL, Stark Z, Orchard D.

Australas J Dermatol. 2011 Feb;52(1):48-51. doi: 10.1111/j.1440-0960.2010.00662.x.

PMID:
21332693
18.

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.

Happle R, Daniëls O, Koopman RJ.

Am J Med Genet. 1993 Oct 1;47(5):710-3. Review.

PMID:
8267001
19.

Focal dermal hypoplasia (Goltz syndrome) with horseshoe kidney abnormality.

Suskan E, Kürkçüoğlu N, Uluoğlu O.

Pediatr Dermatol. 1990 Dec;7(4):283-6.

PMID:
2080123
20.

Diaphragmatic hernia in the Coffin-Siris syndrome.

Delvaux V, Moerman P, Fryns JP.

Genet Couns. 1998;9(1):45-50.

PMID:
9555587

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