X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
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
child (7) 7
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
congenital hypothyroidism - diagnosis (6) 6
craniofacial abnormalities - pathology (6) 6
exons (6) 6
genetic association studies (6) 6
heart defects, congenital - diagnosis (6) 6
intellectual disability - pathology (6) 6
joint instability - diagnosis (6) 6
psychomotor disorders - genetics (6) 6
urogenital abnormalities - diagnosis (6) 6
blepharophimosis - pathology (5) 5
craniofacial abnormalities - diagnosis (5) 5
delineation (5) 5
features (5) 5
heart defects, congenital - pathology (5) 5
infant (5) 5
intellectual disabilities (5) 5
kidney - pathology (5) 5
patella - pathology (5) 5
psychomotor disorders - diagnosis (5) 5
psychomotor disorders - pathology (5) 5
scrotum - pathology (5) 5
urogenital abnormalities - pathology (5) 5
young-simpson syndrome (5) 5
abnormalities, multiple - pathology (4) 4
acute myeloid-leukemia (4) 4
alleles (4) 4
animals (4) 4
biochemistry & molecular biology (4) 4
case report (4) 4
developmental disabilities - genetics (4) 4
gene (4) 4
gene-expression (4) 4
genetic disorders (4) 4
haploinsufficiency (4) 4
kat6a (4) 4
kat6b gene (4) 4
oncology (4) 4
pathology (4) 4
pediatrics (4) 4
querkopf (4) 4
adolescent (3) 3
adult (3) 3
analysis (3) 3
anomalies (3) 3
base sequence (3) 3
birth defects (3) 3
clonal deletion (3) 3
congenital hypothyroidism - pathology (3) 3
de novo mutation (3) 3
dentistry (3) 3
dentistry, oral surgery & medicine (3) 3
developmental delay (3) 3
disorders (3) 3
epicanthus inversus (3) 3
epigenesis, genetic (3) 3
gene expression (3) 3
gene mutations (3) 3
genetic research (3) 3
genetics (3) 3
genomes (3) 3
genotypes (3) 3
growth (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
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
Journal Article
Journal Article
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
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2015, Volume 58, Issue 10, pp. 550 - 555
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 91 - 104
Journal Article