| 1 |
Needle breakage during an inferior alveolar nerve block in a child with KBG syndrome: A case report. ( 29589253
)
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Bagattoni S....Piana G.
|
2018 |
| 2 |
KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition? ( 29696793
)
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Behnert A....Ripperger T.
|
2018 |
| 3 |
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder. ( 29375862
)
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Hodgetts Morton V....Morris K.
|
2018 |
| 4 |
Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study. ( 29311865
)
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van Dongen L.C.M....Egger J.I.M.
|
2017 |
| 5 |
KBG syndrome: An Australian experience. ( 28449295
)
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Murray N....Goel H.
|
2017 |
| 6 |
A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28566769
)
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Kaname T....Yanagi K.
|
2017 |
| 7 |
|
Morel Swols D....Tekin M.
|
2017 |
| 8 |
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. ( 29224748
)
|
Bianchi P.M....De Vincentiis G.C.
|
2017 |
| 9 |
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. ( 28250421
)
|
Miyatake S....Matsumoto N.
|
2017 |
| 10 |
KBG syndrome: 16q24.3 microdeletion in an Indian patient. ( 28099180
)
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Srivastava P....Phadke S.R.
|
2017 |
| 11 |
A splice-site variant in ANKRD11 associated with classical KBG syndrome. ( 28815928
)
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Low K.J....Smithson S.F.
|
2017 |
| 12 |
KBG syndrome involving a single-nucleotide duplication in ANKRD11. ( 27900361
)
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Kleyner R....Lyon G.J.
|
2016 |
| 13 |
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. ( 27605097
)
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Goldenberg A....Philip N.
|
2016 |
| 14 |
Clinical and genetic aspects of KBG syndrome. ( 27667800
)
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Low K....Smithson S.
|
2016 |
| 15 |
Further delineation of the KBG syndrome caused by ANKRD11 aberrations. ( 26269249
)
|
Ockeloen C.W....Kleefstra T.
|
2015 |
| 16 |
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. ( 25413698
)
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Walz K....Tekin M.
|
2015 |
| 17 |
Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment. ( 25833229
)
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Reynaert N....Casteels K.
|
2015 |
| 18 |
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. ( 25464108
)
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Kim H.J....Kim H.J.
|
2015 |
| 19 |
An unusual case of KBG syndrome with unique oral findings. ( 26187867
)
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Hafiz A....Alam M.
|
2015 |
| 20 |
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome. ( 25838844
)
|
Crippa M....Finelli P.
|
2015 |
| 21 |
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. ( 24838796
)
|
Tunovic S....Slavotinek A.M.
|
2014 |
| 22 |
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome. ( 25187894
)
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Lim J.H....Yoo H.W.
|
2014 |
| 23 |
Electroencephalographic findings in KBG syndrome: a child with novel mutation in ANKRD11 gene. ( 25543316
)
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Samanta D....Willis E.
|
2014 |
| 24 |
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. ( 25424714
)
|
Ockeloen C.W....Kleefstra T.
|
2014 |
| 25 |
A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion. ( 23369839
)
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Xu M....Qi M.
|
2013 |
| 26 |
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. ( 23184435
)
|
Lo-Castro A....Curatolo P.
|
2013 |
| 27 |
A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome. ( 23463723
)
|
Miyatake S....Matsumoto N.
|
2013 |
| 28 |
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. ( 21782149
)
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Sirmaci A....Tekin M.
|
2011 |
| 29 |
KBG syndrome: clinical features and specific dental findings. ( 21070713
)
|
Almandey A.H....Fung C.W.
|
2010 |
| 30 |
KBG syndrome associated with periventricular nodular heterotopia. ( 20354438
)
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Oegema R....Mancini G.M.
|
2010 |
| 31 |
Twins with KBG syndrome and autism. ( 19597979
)
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Hah M....Hallmayer J.F.
|
2009 |
| 32 |
Aortic valve regurgitation in a patient affected by KBG syndrome. ( 19301564
)
|
Nicolini F....Gherli T.
|
2009 |
| 33 |
KBG syndrome: review of the literature and findings of 5 affected patients. ( 19716495
)
|
Kumar H....Cameron A.
|
2009 |
| 34 |
The KBG syndrome: Case report. ( 18822138
)
|
Morghen I....Ferri E.
|
2008 |
| 35 |
KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. ( 17230487
)
|
Skjei K.L....Slavotinek A.M.
|
2007 |
| 36 |
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Brancati F....Dallapiccola B.
|
2006 |
| 37 |
Eight isolated cases of KBG syndrome: a new hypothesis of study. ( 15850144
)
|
Davanzo A.M....Roggini M.
|
2005 |
| 38 |
Clinical variability in KBG syndrome: report of three unrelated families. ( 15384099
)
|
Maegawa G.H....da Silveira H.E.
|
2004 |
| 39 |
KBG syndrome in a cohort of Italian patients. ( 15523620
)
|
Brancati F....Dallapiccola B.
|
2004 |
| 40 |
The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype. ( 15378538
)
|
Tekin M....Akar N.
|
2004 |
| 41 |
The KBG syndrome, characteristic dental findings: a case report. ( 11310136
)
|
Dowling P.A....McEntagart M.
|
2001 |
| 42 |
|
Smithson S.F....Winter R.M.
|
2000 |
| 43 |
The KBG syndrome: an additional sporadic case. ( 10756425
)
|
Mathieu M....Piussan C.
|
2000 |
| 44 |
Further delineation of the KBG syndrome. ( 9777340
)
|
Devriendt K....Fryns J.P.
|
1998 |
| 45 |
Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome. ( 9001820
)
|
Rivera-Vega M.R....Kofman-Alfaro S.H.
|
1996 |
| 46 |
The KBG syndrome: follow-up data on three affected brothers. ( 7834892
)
|
Soekarman D....Fryns J.P.
|
1994 |
| 47 |
Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. ( 7810561
)
|
Zollino M....Neri G.
|
1994 |
| 48 |
|
Adam M.P....Amemiya A.
|
1993 |
| 49 |
Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of the KBG syndrome? ( 6467660
)
|
Fryns J.P....Haspeslagh M.
|
1984 |
| 50 |
The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. ( 1218237
)
|
Herrmann J....Opitz J.M.
|
1975 |
Rare neurological diseases
