| 1 |
Expressivity of heritable telecanthus in five generations of a kindred.
56
61
|
Juberg RC...Hirsch R
|
5002294 |
1971 |
| 2 |
Objective measurement of interpupillary distance.
56
|
Pryor HB
|
5365062 |
1969 |
| 3 |
Improvement of Periorbital Appearance in Apert Syndrome After Subcranial Le Fort III With Bipartition and Distraction.
61
|
Chetty V...Arnaud E
|
32011541 |
2020 |
| 4 |
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
61
|
Bizzari S...Megarbane A
|
32006683 |
2020 |
| 5 |
Ipsilateral transnasal medial canthopexy to correct secondary telecanthus after naso-orbito-ethmoid fracture.
61
|
Chu YY...Liao HT
|
32151558 |
2020 |
| 6 |
Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.
61
|
Casano K...Lacassie Y
|
31945512 |
2020 |
| 7 |
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
61
|
Jinxiu L...Wenyuan D
|
32311999 |
2020 |
| 8 |
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
61
|
An Y...Shen Y
|
31980904 |
2020 |
| 9 |
Traumatic Telecanthus and Posterior Lacrimal Crest Avulsion in a Six-Year-Old Child.
61
|
Diaz OJG...Serna DR
|
31490433 |
2019 |
| 10 |
Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome.
61
|
Choi BG...Kim YH
|
31658799 |
2019 |
| 11 |
A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome.
61
|
Parvizi S...Dunaway D
|
31033640 |
2019 |
| 12 |
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
61
|
Balak C...Piton A
|
31422817 |
2019 |
| 13 |
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report.
61
|
Yue F...Wang R
|
31363371 |
2019 |
| 14 |
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
61
|
Sakaguchi A...Takenouchi T
|
30213762 |
2019 |
| 15 |
Orbital Trauma.
61
|
Lozada KN...Smith JE
|
31037047 |
2019 |
| 16 |
Complications and Treatment of Delayed or Inadequately Treated Nasoorbitoethmoid Fractures.
61
|
Han PS...Inman JC
|
31037052 |
2019 |
| 17 |
Correction of Congenital Telecanthus by Extended Medial Epicanthoplasty With Skin Redraping Method.
61
|
Choi JW...Koh KS
|
30870171 |
2019 |
| 18 |
Management of median and paramedian craniofacial clefts.
61
|
Ruegg EM...Pittet-Cuenod B
|
30691993 |
2019 |
| 19 |
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
61
|
Cogne B...Campeau PM
|
30827496 |
2019 |
| 20 |
Pediatric Nasoorbitoethmoid Fractures: Cause, Classification, and Management.
61
|
Lopez J...Dorafshar AH
|
30589796 |
2019 |
| 21 |
Nablus syndrome: Easy to diagnose yet difficult to solve.
61
|
Allanson J...Boycott KM
|
30580486 |
2018 |
| 22 |
A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.
61
|
Choi EY...Lee CS
|
30314436 |
2018 |
| 23 |
Diagnostic algorithm of Down syndrome by minor physical anomaly.
61
|
Bhattacharyya R...Bhattacharyya S
|
30581204 |
2018 |
| 24 |
Amniotic Band Syndrome: A Review of 2 Cases.
61
|
Madan S...Chaudhuri Z
|
29634607 |
2018 |
| 25 |
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
61
|
Reijnders MRF...Wilkie AOM
|
29861108 |
2018 |
| 26 |
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
61
|
Walczak-Sztulpa J...Zachwieja K
|
29134781 |
2018 |
| 27 |
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
61
|
Hamilton MJ...Suri M
|
29021403 |
2018 |
| 28 |
STAR syndrome plus: The first description of a female patient with the lethal form.
61
|
Bedeschi MF...Miozzo M
|
29088509 |
2017 |
| 29 |
Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome.
61
|
Yang L...Xing Y
|
28849110 |
2017 |
| 30 |
Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism.
61
|
Stadelmaier R...Holmes LB
|
28635121 |
2017 |
| 31 |
Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.
61
|
Preiksaitiene E...Kucinskas V
|
27880066 |
2017 |
| 32 |
The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
61
|
Wonkam A...Dahoun S
|
28302550 |
2017 |
| 33 |
Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype.
61
|
Boczek NJ...Lanpher BC
|
28322501 |
2017 |
| 34 |
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
61
|
Walczak-Sztulpa J...Chrzanowska KH
|
28332779 |
2017 |
| 35 |
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
61
|
Kekis M...Pyatt RE
|
28328127 |
2017 |
| 36 |
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
61
|
Tim-Aroon T...Wattanasirichaigoon D
|
28211977 |
2017 |
| 37 |
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.
61
|
Ullah A...Ahmad W
|
27324866 |
2017 |
| 38 |
Surgical Outcome of Epicanthus and Telecanthus Correction by Double Z-Plasty and Trans-Nasal Fixation with Prolene Suture in Blepharophimosis Syndrome.
61
|
Mandal SK...Fowler BT
|
28511421 |
2017 |
| 39 |
Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
61
|
Chai P...Fan X
|
28924383 |
2017 |
| 40 |
Single-Stage Combined Craniofacial Repair for Frontoethmoidal Meningoencephalocele.
61
|
Hassanein AG...Fadle KN
|
27831977 |
2017 |
| 41 |
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series.
61
|
Jain G...Saraswat N
|
28050470 |
2016 |
| 42 |
Educational report: A case of lacrimal sac rhinosporidiosis.
61
|
Jamison A...Gregory ME
|
27541939 |
2016 |
| 43 |
[Anesthetic Management of an Infant with a Chromosome 14q Terminal Deletion Syndrome].
61
|
Naohiro O...Katsuya T
|
30358289 |
2016 |
| 44 |
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.
61
|
Bagattoni S...Piana G
|
27354242 |
2016 |
| 45 |
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome.
61
|
Orge FH...Mitchell AL
|
26882209 |
2016 |
| 46 |
Ocular Findings in Children With 22q11.2 Deletion Syndrome.
61
|
Gokturk B...Reisli I
|
27182748 |
2016 |
| 47 |
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome.
61
|
Chacon-Camacho OF...Zenteno JC
|
27139419 |
2016 |
| 48 |
Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.
61
|
Kemmanu V...Yadav NK
|
27488160 |
2016 |
| 49 |
Development of Strabismus in Children Initially Diagnosed with Pseudostrabismus.
61
|
Sefi-Yurdakul N...Tugcu B
|
27220260 |
2016 |
| 50 |
STAR syndrome-associated CDK10/Cyclin M regulates actin network architecture and ciliogenesis.
61
|
Guen VJ...Colas P
|
27104747 |
2016 |
