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kat6b (32) 32
index medicus (24) 24
genetics & heredity (21) 21
humans (21) 21
female (17) 17
male (16) 16
histone acetyltransferases - genetics (15) 15
mutation (15) 15
phenotype (15) 15
blepharophimosis - genetics (12) 12
de-novo mutations (12) 12
intellectual disability - genetics (12) 12
blepharophimosis (10) 10
cause genitopatellar syndrome (10) 10
heart defects, congenital - genetics (10) 10
histone acetyltransferase (10) 10
histone acetyltransferase kat6b (10) 10
genetic aspects (9) 9
intellectual disability (9) 9
mutations (9) 9
ohdo syndrome (9) 9
child, preschool (8) 8
congenital hypothyroidism - genetics (8) 8
facies (8) 8
genitopatellar syndrome (8) 8
joint instability - genetics (8) 8
kidney - abnormalities (8) 8
mental-retardation (8) 8
patella - abnormalities (8) 8
scrotum - abnormalities (8) 8
blepharophimosis - diagnosis (7) 7
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craniofacial abnormalities - genetics (7) 7
genes (7) 7
intellectual disability - diagnosis (7) 7
urogenital abnormalities - genetics (7) 7
abnormalities, multiple - genetics (6) 6
article (6) 6
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craniofacial abnormalities - pathology (6) 6
exons (6) 6
genetic association studies (6) 6
heart defects, congenital - diagnosis (6) 6
intellectual disability - pathology (6) 6
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psychomotor disorders - genetics (6) 6
urogenital abnormalities - diagnosis (6) 6
blepharophimosis - pathology (5) 5
craniofacial abnormalities - diagnosis (5) 5
delineation (5) 5
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young-simpson syndrome (5) 5
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acute myeloid-leukemia (4) 4
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analysis (3) 3
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dentistry (3) 3
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1. Full Text Genitopatellar Syndrome Secondary to De NovoKAT6B Mutation: The First Genetically Confirmed Case in South Korea
by Kim, Byuh Ree and Han, Jeong Ho and Shin, Jeong Eun and Park, Min Soo and Park, Kook In and Namgung, Ran and Lee, Hyun Joo and Lee, Jin Sung and Eun, Ho Sun
Yonsei medical journal, 04/2019, Volume 60, Issue 4, pp. 395 - 398
Genitopatellar syndrome | KAT6B gene
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2. Full Text Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome
by Radvanszky, J and Hyblova, M and Durovcikova, D and Hikkelova, M and Fiedler, E and Kadasi, L and Turna, J and Minarik, G and Szemes, T
Clinical Genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome ( SBBYSS ) and genitopatellar syndrome ( GTPTS ) are clinically similar disorders with some overlapping features.... 
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | BLEPHAROPHIMOSIS | HISTONE ACETYLTRANSFERASE | FEATURES | RETARDATION | Say-Barber-Biesecker-Young-Simpson syndrome, SBBYSS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype | Index Medicus
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3. Full Text Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
by Kim, BR and Han, JH and Shin, JE and Park, MS and Park, KI and Namgung, R and Lee, HJ and Lee, JS and Eun, HS
YONSEI MEDICAL JOURNAL, ISSN 0513-5796, 04/2019, Volume 60, Issue 4, pp. 395 - 398
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and... 
KAT6B gene | MEDICINE, GENERAL & INTERNAL | HISTONE ACETYLTRANSFERASE | Genitopatellar syndrome | KAT6B | YOUNG-SIMPSON SYNDROME | Case Report
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4. Full Text Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association
by Knight, Samantha and VanHouwelingen, Lisa and Cervi, David and Clay, Michael R and Corkins, Mark and Hines‐Dowell, Stacy and Hamilton, Kayla V and Mostafavi, Roya and Ward, Jewell and Furman, Wayne L and Murphy, Andrew Jackson
Pediatric Blood & Cancer, ISSN 1545-5009, 12/2018, Volume 65, Issue 12, pp. e27373 - n/a
ONCOLOGY | KAT6B | ANOMALIES | PHENOTYPE | PEDIATRICS | MUTATIONS | HEMATOLOGY | ACETYLTRANSFERASE | FEMALE | Neuroblastoma
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5. Full Text Novel truncating variants expand the phenotypic spectrum of KAT6B‐related disorders
by Brea‐Fernández, Alejandro and Dacruz, David and Eirís, Jesús and Barros, Francisco and Carracedo, Ángel
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 290 - 294
Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. Because... 
related disorders | Say‐Barber‐Biesecker‐Young‐Simpson syndrome | Genitopatellar syndrome | KAT6B | intellectual disability | Say-Barber-Biesecker-Young-Simpson syndrome | KAT6B-related disorders | GENE | GENETICS & HEREDITY | MUTATIONS | YOUNG-SIMPSON SYNDROME | FEATURES | Phenotypes
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6. Full Text An Individual With Blepharophimosis- PtosisEpicanthus Inversus Syndrome ( BPES) and Additional Features Expands the Phenotype Associated With Mutations in KAT6B
by Yu, HC and Geiger, EA and Medne, L and Zackai, EH and Shaikh, TH
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 04/2014, Volume 164, Issue 4, pp. 950 - 957
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder caused by mutations in FOXL2. We identified an individual with... 
NOONAN SYNDROME | BPES | MENTAL-RETARDATION | ptosis | OHDO SYNDROME | FOXL2 | HISTONE ACETYLTRANSFERASE KAT6B | AUTISM SPECTRUM DISORDERS | KABUKI SYNDROME | blepharophimosis | whole exome sequencing | DE-NOVO MUTATIONS | KAT6B | CAUSE GENITOPATELLAR SYNDROME | GENETICS & HEREDITY | epicanthus inversus
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7. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
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8. Full Text A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders
by Marangi, Giuseppe and Di Giacomo, Marilena C and Lattante, Serena and Orteschi, Daniela and Patrizi, Sara and Doronzio, Paolo N and Riviello, Francesco N and Vaisfeld, Alessandro and Frangella, Silvia and Zollino, Marcella
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 455 - 459
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome... 
skeletal anomalies | related disorders | KAT6B | focused exome sequencing | KAT6B-related disorders | RETARDATION | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE | MUTATIONS | PHENOTYPIC SPECTRUM | Patella - physiopathology | Scrotum - abnormalities | Scrotum - physiopathology | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Psychomotor Disorders - physiopathology | Urogenital Abnormalities - physiopathology | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Kidney - physiopathology | Haploinsufficiency - genetics | Genetic Association Studies | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Phenotype | Kidney - abnormalities | Alleles | Heart Defects, Congenital - physiopathology | Mutation | Joint Instability - physiopathology | Blepharophimosis - physiopathology | Urogenital Abnormalities - genetics | Medical genetics | Intellectual disabilities | Genotypes | Haploinsufficiency | Index Medicus
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9. Full Text Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum
by Demeulenaere, Sofie and Beysen, Diane and De Veuster, Ilse and Reyniers, Edwin and Kooy, Frank and Meuwissen, Marije
European Journal of Medical Genetics, ISSN 1769-7212, 08/2019, Volume 62, Issue 8, pp. 103691 - 103691
Mutations in the chromatin regulator gene were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up... 
Coloboma | BRPF1 | Intellectual disability | Corpus callosum hypoplasia | Facial nerve palsy | DE-NOVO MUTATIONS | GENE | KAT6B | GENETICS & HEREDITY | REGULATOR BRPF1
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10. Full Text A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing
by Yilmaz, Rüstem and Beleza‐Meireles, Ana and Price, Susan and Oliveira, Renata and Kubisch, Christian and Clayton‐Smith, Jill and Szakszon, Katalin and Borck, Guntram
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3006 - 3010
Mutations of the histone acetyltransferase-encoding KAT6B gene cause the Say-Barber-Biesecker/Young-Simpson (SBBYS) type of blepharophimosis-"mental... 
Young‐Simpson syndrome | Say‐Barber‐Biesecker syndrome | recurrent mutation | KAT6B | Ohdo syndrome | Say-Barber-Biesecker syndrome | Young-Simpson syndrome | Recurrent mutation | DE-NOVO MUTATIONS | CAUSE GENITOPATELLAR SYNDROME | GENETICS & HEREDITY | HISTONE ACETYLTRANSFERASE KAT6B | Congenital Hypothyroidism - etiology | RNA Splice Sites | Heart Defects, Congenital - etiology | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Male | Blepharophimosis - etiology | Intellectual Disability - genetics | Pregnancy | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | RNA Splicing | Congenital Hypothyroidism - genetics | Facies | Female | Intellectual Disability - etiology | Joint Instability - etiology | Mutation | Child | Index Medicus
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11. Full Text De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl with Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment
by Lei, Ting-Ying and Wang, Hong-Tao and Li, Fan and Cui, Ying-Qiu and Fu, Fang and Li, Ru and Liao, Can
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 5/2017, Volume 54, Issue 3, pp. 343 - 350
Interstitial deletions of chromosome band 10q22.1q22.3 are rare. We here report a 2.5-year-old female patient with developmental delay, speech delay,... 
Cleft palate | KAT6B | Chromosome microarray analysis | 10Q22.2q22.3 deletion | C10orf11 | Developmental delay | Speech delay | SURGERY | GENOMIC DISORDER | cleft palate | HISTONE ACETYLTRANSFERASE KAT6B | 10q22.2q22.3 deletion | INTERSTITIAL DELETION | INDIVIDUALS | chromosome microarray analysis | GENE | CAUSE GENITOPATELLAR SYNDROME | DENTISTRY, ORAL SURGERY & MEDICINE | speech delay | developmental delay | MUTATIONS | Chromosome Deletion | Language Development Disorders - genetics | Humans | Child, Preschool | Cleft Palate - genetics | Developmental Disabilities - genetics | Hearing Loss - genetics | Hearing Loss - congenital | Microarray Analysis | Karyotyping | Polymorphism, Single Nucleotide - genetics | Female | Abnormalities, Multiple - genetics | Case studies | Hearing disorders | Intellectual disabilities | Genes | Ear diseases | Genomes | Birth defects | Hearing impairment | Patients | Children & youth | Parents & parenting | Speech | Genetic testing | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus | Dentistry
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12. Full Text Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion
by Preiksaitiene, Egle and Tumienė, Birutė and Maldžienė, Živilė and Pranckevičienė, Erinija and Morkūnienė, Aušra and Utkus, Algirdas and Kučinskas, Vaidutis
Ophthalmic Genetics, ISSN 1381-6810, 07/2017, Volume 38, Issue 4, pp. 383 - 386
Background: Blepharophimosis is a fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. It is a rare... 
KAT6B gene | blepharophimosis | intellectual disability | 10q22 deletion | ptosis | HISTONE ACETYLTRANSFERASE | DELINEATION | KAT6B | CAUSE GENITOPATELLAR SYNDROME | GENETICS & HEREDITY | OPHTHALMOLOGY | OHDO-SYNDROME | MUTATIONS | Chromosome Deletion | Urogenital Abnormalities - diagnosis | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Developmental Disabilities - genetics | Skin Abnormalities - diagnosis | Intellectual Disability - genetics | Blepharophimosis - genetics | Intellectual Disability - diagnosis | Karyotyping | Blepharophimosis - diagnosis | Female | Skin Abnormalities - genetics | Chromosomes, Human, Pair 10 - genetics | Developmental Disabilities - diagnosis | Real-Time Polymerase Chain Reaction | Urogenital Abnormalities - genetics | Index Medicus
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13. Full Text Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is... 
TRRAP | de novo variants | congenital malformations | autism spectrum disorder | neurodevelopmental disorders | histone acetylation | intellectual disability | REGULATOR | RUBINSTEIN-TAYBI-SYNDROME | DE-NOVO MUTATIONS | CHROMATIN | KAT6B | GENETICS & HEREDITY | BRAIN-DEVELOPMENT | SELF-RENEWAL | SCHIZOPHRENIA | COFACTOR | RNAI SCREEN | Autism | Gene mutations | Physiological aspects | Genetic aspects | Research | Mental retardation | Risk factors | Index Medicus | Life Sciences | Genetics | Report
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14. Full Text A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B -related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
by Vlckova, Marketa and Simandlova, Martina and Zimmermann, Pavel and Stranecky, Viktor and Hartmannova, Hana and Hodanova, Katerina and Havlovicova, Marketa and Hancarova, Miroslava and Kmoch, Stanislav and Sedlacek, Zdenek
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 10, pp. 550 - 555
Abstract Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are two distinct clinically overlapping syndromes caused by de... 
Medical Education | Say-Barber-Biesecker-Young-Simpson syndrome | Genotype-phenotype correlation | Genitopatellar syndrome | KAT6B | DELINEATION | DE-NOVO MUTATIONS | CAUSE GENITOPATELLAR SYNDROME | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Exons | Humans | Joint Instability - genetics | Histone Acetyltransferases - genetics | Molecular Sequence Data | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Base Sequence | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Female | Child | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Phenotype | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic aspects | Analysis | Medical genetics | Index Medicus
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15. Full Text Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
by Yan, Kezhi and Rousseau, Justine and Littlejohn, Rebecca Okashah and Kiss, Courtney and Lehman, Anna and Rosenfeld, Jill A and Stumpel, Constance T.R and Stegmann, Alexander P.A and Robak, Laurie and Scaglia, Fernando and Nguyen, Thi Tuyet Mai and Fu, He and Ajeawung, Norbert F and Camurri, Maria Vittoria and Li, Lin and Gardham, Alice and Panis, Bianca and Almannai, Mohammed and Sacoto, Maria J. Guillen and Baskin, Berivan and Ruivenkamp, Claudia and Xia, Fan and Bi, Weimin and Cho, Megan T and Potjer, Thomas P and Santen, Gijs W.E and Parker, Michael J and Canham, Natalie and McKinnon, Margaret and Potocki, Lorraine and MacKenzie, Jennifer J and Roeder, Elizabeth R and Campeau, Philippe M and Yang, Xiang-Jiao and DDD Study and CAUSES Study
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 91 - 104
Identification of over 500 epigenetic regulators in humans raises an interesting question regarding how chromatin dysregulation contributes to different... 
bromodomain | BRPF2 | PZP domain | epigenetic regulator | PWWP domain | developmental disorder | intellectual disability | PHD finger | histone acetylation | HBO1 ACETYLTRANSFERASE | PZP DOMAIN | CAENORHABDITIS-ELEGANS | DE-NOVO MUTATIONS | KAT6B | CAUSE GENITOPATELLAR SYNDROME | HEMATOPOIETIC STEM-CELLS | GENETICS & HEREDITY | ZINC-FINGER PROTEIN | PHD FINGER | EXPRESSION | Chromatin - metabolism | Face - abnormalities | Humans | Histone Acetyltransferases - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Female | Lysine - metabolism | Acetylation | Nuclear Proteins - genetics | Child | Chromatin - chemistry | Muscle Hypotonia - genetics | Mice, Inbred C57BL | Syndrome | Mice, Knockout | Carrier Proteins - genetics | Animals | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Alleles | Mice | Histones - metabolism | Mutation | Chromatin | Gene mutations | Causes of | Genetic aspects | Health aspects | Mental retardation | Epigenetics | Intellectual disabilities | Genes | Index Medicus
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