Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Rekurrente Blasenmole 1

Die rekurrente Blasenmole vom Typ 1 ist eine autosomal rezessive Erkrankung die durch Mutationen im NALP7-Gen hervorgerufen wird.

Gliederung

Hypomethylierungs-Syndrom
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Rekurrente Blasenmole 1
NLRP7
Rekurrente Blasenmole 2
ZFP57

Referenzen:

1.

Vejerslev LO et. al. (1991) Hydatidiform mole and fetus with normal karyotype: support of a separate entity.

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2.

Moglabey YB et. al. (1999) Genetic mapping of a maternal locus responsible for familial hydatidiform moles.

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3.

Sensi A et. al. (2000) Mole maker phenotype: possible narrowing of the candidate region.

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4.

Fisher RA et. al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles.

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5.

Murdoch S et. al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

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6.

Djuric U et. al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.

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7.

Deveault C et. al. (2009) NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

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8.

Wang CM et. al. (2009) Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

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9.

Andreasen L et. al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.

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10.

Fallahian M et. al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.

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11.

Nguyen NM et. al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

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12.

Kajii T et. al. (1977) Androgenetic origin of hydatidiform mole.

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13.

Lindor NM et. al. (1992) A genetic review of complete and partial hydatidiform moles and nonmolar triploidy.

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14.

Fisher RA et. al. (1988) Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole.

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15.

Ambani LM et. al. (1980) Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families.

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16.

Seoud M et. al. (1995) Recurrent molar pregnancies in a family with extensive intermarriage: report of a family and review of the literature.

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17.

Sunde L et. al. (1993) Genetic analysis of repeated, biparental, diploid, hydatidiform moles.

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18.

Helwani MN et. al. () A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution.

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19.

El-Maarri O et. al. (2003) Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

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20.

Slim R et. al. (2007) The genetics of hydatidiform moles: new lights on an ancient disease.

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