Publications

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Burnell L, Verchere C, Pugash D, Loock C, Robertson S, Lehman A. "Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/- palate." Arch. Dis. Child. Fetal Neonatal Ed.. 2014. Abstract
Burke LW, Jones MC. "Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients." Cleft Palate Craniofac. J.. 1995;32(1):77-84. Abstract
Braun OH, Schmid E. "Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in Europe." J. Pediatr.. 1984;105(5):849-50.
Braun OH, Schmid E. "[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)]." Klin Padiatr. 1986;198(1):65-8. Abstract
Brackmann F, Krumbholz M, Langer T, Rascher W, Holter W, Metzler M. "Novel MLL2 Mutation in Kabuki Syndrome With Hypogammaglobulinemia and Severe Chronic Thrombopenia." J. Pediatr. Hematol. Oncol.. 2012. Abstract
Bottani A, Pardo B, Bouchardy I, Schoumans J, Toutain A, Conrad B. "No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome." Am. J. Med. Genet. A. 2006;140(8):903-5.
Bokinni Y. "Kabuki syndrome revisited." J. Hum. Genet.. 2012;57(4):223-7. Abstract
Bögershausen N, Bruford E, Wollnik B. "Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases." Clin. Genet.. 2012. Abstract
Bögershausen N, Altunoglu U, Beleggia F, et al. "An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity." American Journal of Medical Genetics Part A. 2016;170(12):3282-3288.
Bögershausen N, Gatinois V, Riehmer V, et al. "Mutation Update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2." Hum. Mutat.. 2016. Abstract
Bögershausen N, Tsai I-C, Pohl E, et al. "RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome." J. Clin. Invest.. 2015;125(9):3585-99. Abstract
Bögershausen N, Wollnik B. "Unmasking Kabuki syndrome." Clin. Genet.. 2012. Abstract
Bjornsson HT, Benjamin JS, Zhang L, et al. "Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome." Sci Transl Med. 2014;6(256):256ra135. Abstract
den Biggelaar AM, Kuijpers-Jagtman AM, Bergé SJ, Katsaros C. "[Kabuki syndrome, a congenital syndrome with multiple anomalies]." Ned Tijdschr Tandheelkd. 2006;113(12):516-9. Abstract
Bianca S, Barrano B, Cataliotti A, Indaco L, Ingegnosi C, Ettore G. "Kabuki syndrome and sex chromosomal anomalies: is it really an association?" Fertil. Steril.. 2009;91(5):e6.
Bhat AH, Davenport J, Cocalis M. "Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome." Echocardiography. 2012. Abstract
Bernier F-E, Schreiber A, Coulombe J, Hatami A, Marcoux D. "Pilomatricoma Associated with Kabuki Syndrome." Pediatric Dermatology. 2016.
Bereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F. "Two patients with Kabuki syndrome presenting with endocrine problems." J. Pediatr. Endocrinol. Metab.. 2001;14(2):215-20. Abstract
Berdasco M, Esteller M. "Genetic syndromes caused by mutations in epigenetic genes." Hum. Genet.. 2013;132(4):359-83. Abstract
Benjamin JS, Pilarowski GO, Carosso GA, et al. "A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome." Proceedings of the National Academy of Sciences. 2016:201611431.
Ben-Omran T, Teebi AS. "Structural central nervous system (CNS) anomalies in Kabuki syndrome." Am. J. Med. Genet. A. 2005;137(1):100-3.
Belengeanu V, Rozsnyai K, Farcaş S, Velea I, Fryns J-P. "Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome?" Genet. Couns.. 2005;16(2):167-71. Abstract
Bayar Muluk N, Yalçinkaya F, Budak B, Gündüz S, Ayas K. "Evaluation for language and speech development in Kabuki make-up syndrome: a case report." Int. J. Pediatr. Otorhinolaryngol.. 2009;73(12):1837-40. Abstract
Barozzi S, Di Berardino F, Atzeri F, et al. "Audiological and vestibular findings in the Kabuki syndrome." Am. J. Med. Genet. A. 2009;149A(2):171-6. Abstract
Banka S, Veeramachaneni R, Reardon W, et al. "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum." Eur. J. Hum. Genet.. 2012;20(4):381-8. Abstract