| 1 |
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? ( 29372559
)
|
Vuillaume M.L....Toutain A.
|
2018 |
| 2 |
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. ( 28371070
)
|
Schmidt J....Gillessen-Kaesbach G.
|
2017 |
| 3 |
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. ( 29240237
)
|
Chong K....Shannon P.
|
2017 |
| 4 |
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. ( 27739211
)
|
Vaisfeld A....Neri G.
|
2017 |
| 5 |
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. ( 28746062
)
|
Nakane T....Sugita K.
|
2017 |
| 6 |
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. ( 28469860
)
|
StA...Vestergaard E.M.
|
2017 |
| 7 |
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. ( 28600484
)
|
Zimmermann N....Stanek J.
|
2017 |
| 8 |
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. ( 26742178
)
|
Parashar P....Potter B.
|
2016 |
| 9 |
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. ( 26847959
)
|
MujezinoviA8 F....VokaA8 N.K.
|
2016 |
| 10 |
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. ( 27790374
)
|
Shimojima K....Yamamoto T.
|
2016 |
| 11 |
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. ( 27589329
)
|
Kehrer C....Gembruch U.
|
2016 |
| 12 |
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. ( 26692054
)
|
Halayem S....Bouden A.
|
2016 |
| 13 |
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. ( 27612164
)
|
Magini P....Lalatta F.
|
2016 |
| 14 |
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. ( 27449335
)
|
Silva E.R....Xavier S.P.
|
2016 |
| 15 |
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. ( 26915941
)
|
Spencer C....Beighton P.
|
2016 |
| 16 |
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172
)
|
Fauth C....Rauch A.
|
2015 |
| 17 |
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. ( 25073799
)
|
Agatep R....Stockley T.L.
|
2014 |
| 18 |
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. ( 24459012
)
|
Kosaki R....Kosaki K.
|
2014 |
| 19 |
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. ( 25804025
)
|
Demir I.E....Tuncer O.
|
2014 |
| 20 |
Simpson-golabi-behmel syndrome types I and II. ( 25238977
)
|
Tenorio J....Lapunzina P.
|
2014 |
| 21 |
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. ( 25245233
)
|
Bayram M....Seymen F.
|
2014 |
| 22 |
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. ( 24214682
)
|
Cottereau E....Toutain A.
|
2014 |
| 23 |
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. ( 23606591
)
|
Cottereau E....Toutain A.
|
2013 |
| 24 |
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. ( 24115482
)
|
Villarreal D.D....Powers G.C.
|
2013 |
| 25 |
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. ( 24166811
)
|
Neri G....Opitz J.M.
|
2013 |
| 26 |
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737
)
|
Mateos M.E....Matas J.
|
2013 |
| 27 |
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. ( 24357529
)
|
Jedraszak G....Demeer B.
|
2013 |
| 28 |
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. ( 24169032
)
|
Ochiai D....Fukuiya T.
|
2013 |
| 29 |
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092
)
|
Chen C.P.
|
2012 |
| 30 |
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. ( 22893378
)
|
Thomas M....Roeder E.
|
2012 |
| 31 |
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. ( 22807161
)
|
Garavelli L....Neri G.
|
2012 |
| 32 |
Simpson-Golabi-Behmel syndrome associated with cleft palate. ( 21959466
)
|
Morita Y....Morita N.
|
2011 |
| 33 |
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. ( 21204223
)
|
Gurrieri F....Neri G.
|
2011 |
| 34 |
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review. ( 21362501
)
|
Weichert J....Hellenbroich Y.
|
2011 |
| 35 |
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. ( 20950395
)
|
Yano S....Ray P.N.
|
2011 |
| 36 |
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. ( 20683991
)
|
Gertsch E....Babovic-Vuksanovic D.
|
2010 |
| 37 |
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. ( 21434539
)
|
Ratbi I....Sefiani A.
|
2010 |
| 38 |
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. ( 21082656
)
|
Waterson J....Golabi M.
|
2010 |
| 39 |
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. ( 19372699
)
|
Li C.C....McDonald S.D.
|
2009 |
| 40 |
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. ( 19842194
)
|
Griffith C.B....Vance G.H.
|
2009 |
| 41 |
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. ( 19681434
)
|
Agarwal M....Gupta A.
|
2009 |
| 42 |
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. ( 19590577
)
|
Capurro M.I....Filmus J.
|
2009 |
| 43 |
A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. ( 19215053
)
|
Shi W....Filmus J.
|
2009 |
| 44 |
New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. ( 19631996
)
|
Glamuzina E....Mahadevan M.
|
2009 |
| 45 |
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. ( 18203194
)
|
PAcnisson-Besnier I....Bonneau D.
|
2008 |
| 46 |
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. ( 18619000
)
|
Van Borsel J....Van Lierde K.
|
2008 |
| 47 |
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. ( 17850639
)
|
Romanelli V....Lapunzina P.
|
2007 |
| 48 |
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. ( 17549790
)
|
Davoodi J....MacKenzie A.E.
|
2007 |
| 49 |
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. ( 17603795
)
|
Sakazume S....Ohashi H.
|
2007 |
| 50 |
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. ( 16458828
)
|
Young E.L....Nigro M.A.
|
2006 |
