Bianca M de Graaf
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Explore the profile of Bianca M de Graaf including associated specialties, affiliations and a list of published articles.
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20
Citations
872
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Recent Articles
1.
Zada A, Zhao Y, Halim D, Windster J, der Linde H, Glodener J, et al.
Hum Mol Genet
. 2022 Aug;
32(1):151-160.
PMID: 35981053
Filamin A (FLNA) is a cytoplasmic actin binding protein, recently shown to be expressed as a long and short isoform. Mutations in FLNA are associated with a wide spectrum of...
2.
Zada A, Kuil L, de Graaf B, Kakiailatu N, Windster J, Brooks A, et al.
Front Cell Dev Biol
. 2022 Jul;
10:901824.
PMID: 35874825
Pediatric Intestinal Pseudo-obstruction (PIPO) is a congenital enteric disorder characterized by severe gastrointestinal (GI) dysmotility, without mechanical obstruction. Although several genes have been described to cause this disease, most patients...
3.
Ten Kate C, de Klein A, de Graaf B, Doukas M, Koivusalo A, Pakarinen M, et al.
Cancers (Basel)
. 2022 Feb;
14(3).
PMID: 35158780
The prevalence of Barrett's esophagus (BE) in adults born with esophageal atresia (EA) is four times higher than in the general population and presents at a younger age (34 vs....
4.
MacKenzie K, Garritsen R, Chauhan R, Sribudiani Y, de Graaf B, Rugenbrink T, et al.
Int J Mol Sci
. 2021 Nov;
22(22).
PMID: 34830235
Patients with Hirschsprung disease (HSCR) do not always receive a genetic diagnosis after routine screening in clinical practice. One of the reasons for this could be that the causal mutation...
5.
Kuil L, MacKenzie K, Tang C, Windster J, Le T, Karim A, et al.
PLoS Genet
. 2021 Aug;
17(8):e1009698.
PMID: 34358225
Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding...
6.
MacKenzie K, de Graaf B, Syrimis A, Zhao Y, Brosens E, Mancini G, et al.
Hum Mutat
. 2020 Sep;
41(11):1906-1917.
PMID: 32939943
Goldberg-Shprintzen syndrome (GOSHS) is caused by loss of function variants in the kinesin binding protein gene (KIFBP). However, the phenotypic range of this syndrome is wide, indicating that other factors...
7.
Sribudiani Y, Chauhan R, Alves M, Petrova L, Brosens E, Harrison C, et al.
Gastroenterology
. 2018 Mar;
155(1):118-129.e6.
PMID: 29601828
Background & Aims: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have...
8.
Halim D, Brosens E, Muller F, Wangler M, Beaudet A, Lupski J, et al.
Am J Hum Genet
. 2017 Jun;
101(1):123-129.
PMID: 28602422
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be...
9.
Alves M, Halim D, Maroofian R, de Graaf B, Rooman R, van der Werf C, et al.
Eur J Hum Genet
. 2016 Jun;
24(11):1627-1629.
PMID: 27352967
Congenital short bowel syndrome (CSBS) is an intestinal pediatric disorder, where patients are born with a dramatic shortened small intestine. Pathogenic variants in CLMP were recently identified to cause an...
10.
Widowati T, Melhem S, Patria S, de Graaf B, Sinke R, Viel M, et al.
Eur J Hum Genet
. 2015 Sep;
24(6):823-9.
PMID: 26395553
Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is...