Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.

scientific article published on 27 September 2016

Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/PD.4920
P698PubMed publication ID27589329

P50authorAlexander HoischenQ75069951
Ulrich GembruchQ112456236
P2093author name stringAndreas Müller
Heiko Reutter
Sarah Kim
Alina Hilger
Christoph Berg
Anne Geipel
Martina Kreiß
Valerie Weitensteiner
Christina Kehrer
Eva Schwab
Ralf Menkhaus
P2860cites workGPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndromeQ22004005
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predispositionQ28210410
Genetic considerations in the prenatal diagnosis of overgrowth syndromesQ28252301
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic herniaQ28657716
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasoundQ33649327
Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.Q33939387
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndromeQ34539684
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.Q36493270
Chromosomal microarray versus karyotyping for prenatal diagnosisQ36546668
Recent developments in the genetic factors underlying congenital diaphragmatic herniaQ37819761
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysisQ38091392
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literatureQ38100766
Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.Q41931303
Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?Q57386634
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalitiesQ57839567
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndromeQ58051139
P433issue10
P921main subjectkaryotypeQ189967
P304page(s)961-965
P577publication date2016-09-27
P1433published inPrenatal DiagnosisQ15760059
P1476titleWhole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.
P478volume36

Reverse relations

cites work (P2860)
Q48150096Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".
Q33625722First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray
Q52325416Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Q33817751Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules.
Q91873307Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses
Q90947541Whole-exome sequencing in fetuses with central nervous system abnormalities

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