scholarly article | Q13442814 |
P356 | DOI | 10.1002/PD.4920 |
P698 | PubMed publication ID | 27589329 |
P50 | author | Alexander Hoischen | Q75069951 |
Ulrich Gembruch | Q112456236 | ||
P2093 | author name string | Andreas Müller | |
Heiko Reutter | |||
Sarah Kim | |||
Alina Hilger | |||
Christoph Berg | |||
Anne Geipel | |||
Martina Kreiß | |||
Valerie Weitensteiner | |||
Christina Kehrer | |||
Eva Schwab | |||
Ralf Menkhaus | |||
P2860 | cites work | GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome | Q22004005 |
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition | Q28210410 | ||
Genetic considerations in the prenatal diagnosis of overgrowth syndromes | Q28252301 | ||
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia | Q28657716 | ||
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound | Q33649327 | ||
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 syndrome | Q34539684 | ||
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 diagnosis | Q36546668 | ||
Recent developments in the genetic factors underlying congenital diaphragmatic hernia | Q37819761 | ||
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis | Q38091392 | ||
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature | Q38100766 | ||
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 abnormalities | Q57839567 | ||
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome | Q58051139 | ||
P433 | issue | 10 | |
P921 | main subject | karyotype | Q189967 |
P304 | page(s) | 961-965 | |
P577 | publication date | 2016-09-27 | |
P1433 | published in | Prenatal Diagnosis | Q15760059 |
P1476 | title | Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. | |
P478 | volume | 36 |
Q48150096 | Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome". |
Q33625722 | First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray |
Q52325416 | Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. |
Q33817751 | Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. |
Q91873307 | Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses |
Q90947541 | Whole-exome sequencing in fetuses with central nervous system abnormalities |
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