Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Clinical Application of Turnover Lengthening of the Palmaris Longus Tendon in Modified Camitz Opponensplasty for Severe Carpal Tunnel Syndrome.

[Endoscopic-assisted median nerve decompression combined with one-stage tendon transfer for reconstruction of thumb abduction in treatment of severe carpal tunnel syndrome].

Free functional gracilis muscle opponensplasty for thenar reconstruction: Indications, technique, and long-term outcomes.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

Effects of home exercise-based mobile games on thumb rehabilitation outcomes mobile games on thumb rehabilitation.

Regional Peripheral Neuromodulation via Glucopuncture: A Novel Targeted Approach for Persistent Myofascial Dysfunction.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rare features in Feingold syndrome type 1.

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case Report.

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.

Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.

Failed Thumb Basal Joint Arthroplasty: An Analysis of Common Etiologies Leading to Reoperation.

A New EP300 -Related Syndrome With Prominent Developmental and Immune Phenotypes.

[Clinical observation on the efficacy of ringheaded thumb-tack needle therapy combined with tuina and active functional exercise in the treatment of neck-type cervical spondylosis].

Total Arthroplasty Versus Trapeziectomy With Ligamentoplasty for Trapeziometacarpal Osteoarthritis: 5-year Outcomes.

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Single-Stage Mini-Open Release for Bilateral Carpal Tunnel Syndrome - A Case Report.

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Special issue: nerve compression syndromes "Brachioradialis, or "High Wartenberg", syndrome - compression of the sensory branch of the radial nerve in the proximal forearm.

Trigger finger - Poor outcome of surgery associated with younger age, pain, psoriatic arthritis and atopic disease.

Rubinstein-Taybi Syndrome Clinical Characteristics from the Perspective of Quality of Life and the Impact of the Disease on Family Functioning.

Prenatal diagnosis of recurrent Kagami-Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review.

Polybrachysyndactyly in all 4 extremities: Case report.

Cancer risk in individuals with polydactyly: a Swedish population-based cohort study.

The Phenotype-Based Approach Can Solve Cold Cases: The Paradigm of Mosaic Mutations of the CREBBP Gene.

Effectiveness of Tailor-Made Physiotherapy Protocol in Smartphone-Addicted Individuals With Text Neck Syndrome and Short Message Service (SMS) Thumb.

Modified Extensor Indicis Proprius Opponensplasty.

Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury.

Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.

First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia.

Efficacy of splinting the wrist and metacarpophalangeal joints for the treatment of Carpal tunnel syndrome: an assessor-blinded randomised controlled trial.

Targeted partial arthroscopic trapeziectomy with temporary distraction: a retrospective study with 5-year follow-up.

Molecular insight into CREBBP and TANGO2 variants causing intellectual disability.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.

Delayed Surgical Treatment in Patients with Chronic Carpal Tunnel Syndrome Is Still Effective in the Improvement of Hand Function.

Wide-awake local anesthesia no tourniquet and dexamethasone (WALANT-D) for modified Camitz opponens plasty in severe carpal tunnel syndrome-a retrospective study of 30 cases.

Anomaly originated flexor digitorum superficialis muscle of the small finger: A case report.

Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome.

Anterior interosseous nerve syndrome following infection with COVID-19: a case report.

Dermatological findings in Rubinstein-Taybi Syndrome.

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.

Sarcopenia and coexistent risk factors detected using the 'Yubi-wakka' (finger-ring) test in adults aged over 65 years in the public annual health check-up in Tama City, Tokyo: a cross-sectional study.

A fully capable pianist with a congenital bilateral agenesis of extensor pollicis brevis muscle.

Effects of L1 adhesion molecule agonistic mimetics on signal transduction in neuronal functions.

Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.

Common Hand Conditions: A Review.

The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant.

Prevalence of First Carpometacarpal Joint Osteoarthritis and Carpal Tunnel Syndrome Among Dentists in Saudi Arabia.

Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.

Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.

A Systematic Review of the Outcomes of Carpal Ligament Release in Severe Carpal Tunnel Syndrome.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.

Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.

Monitoring of compound resting membrane potentials of cell cultures with ratiometric genetically encoded voltage indicators.

Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder.

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.

Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient.

Feingold syndrome type 2 in a patient from China.

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.

Correlation of Patient-Reported Outcomes Measurement Information System Questionnaires With the Brief Michigan Hand Questionnaire in Patients With 5 Common Hand Conditions.

Oral Manifestations of Rett Syndrome-A Systematic Review.

Amelioration of the abnormal phenotype of a new L1 syndrome mouse mutation with L1 mimetics.

Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Human ankyrins and their contribution to disease biology: An update.

Barrett's Esophagus in Rubinstein-Taybi Syndrome.

Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.

Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.

Rubinstein-Taybi syndrome in diverse populations.

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.

"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

Single Assessment Numeric Evaluation (SANE) in Hand Surgery: Does a One-Question Outcome Instrument Compare Favorably?

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

L1CAM mutations in three fetuses diagnosed by medical exome sequencing.

Maximum Palmar Abduction Angle of the Trapeziometacarpal Joint in Healthy Subjects Can Be Evaluated Accurately Using a Radiograph-Based Measurement Technique.

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Reconstruction of a Chronic Volkmann Contracture following Forearm Revascularization with Burkhalter's Procedure and Fractional Flexor Tendon Lengthening after a Failed Stiles-Bunnell Transfer.

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Trapeziometacarpal Joint Arthroplasty of the Thumb without Osseous Tunnels and Carpal Tunnel Release via a Radial Approach; Technique, and Results.

[Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome].

Fear of movement disturbs inter-limb coupling in complex regional pain syndrome.

Lenz-Majewski syndrome in a patient from Egypt.

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.

Functional Connectivity Changes After Initial Treatment With Fingolimod in Multiple Sclerosis.

Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient.

Variability of PROMIS Scores Across Hand Conditions.

Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment: A STROBE compliant study.

Subclinical motor impairment assessed with an engineered glove correlates with magnetic resonance imaging tissue damage in radiologically isolated syndrome.

The value of remembered pre-operative quick disabilities of the arm, shoulder and hand (QuickDASH) scores.

Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations.

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

A Pulsed Electrical Joint Stimulator for the Treatment of Osteoarthritis of the Hand and Wrist.

Partial Versus Total Trapeziectomy Thumb Arthroplasty: An Expertise-based Feasibility Study.

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

Grip and slip of L1-CAM on adhesive substrates direct growth cone haptotaxis.

Perthes disease: A new finding in Floating-Harbor syndrome.

Fear of movement modulates the feedforward motor control of the affected limb in complex regional pain syndrome (CRPS): A single-case study.

Necrosis of the thumb after inadvertent injection of diclofenac in the radial artery: a case report.

Early Motor Developmental Milestones and Schizotypy in the Northern Finland Birth Cohort Study 1966.

Restoration of motor control and proprioceptive and cutaneous sensation in humans with prior upper-limb amputation via multiple Utah Slanted Electrode Arrays (USEAs) implanted in residual peripheral arm nerves.

Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients.

[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

Hand span influences optimal grip span in adolescents with Down syndrome.

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.

Rubinstein-Taybi syndrome.

De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

A comprehensive musculoskeletal and peripheral nervous system assessment of war-related bilateral upper extremity amputees.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Remembered preoperative Quick disabilities of the arm, shoulder and hand (QuickDASH) scores.

Mosaic trisomy 8 detected by fibroblasts cultured of skin.

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

Epilepsy in KCNH1-related syndromes.

Identification of Subgroups of Women with Carpal Tunnel Syndrome with Central Sensitization.

Induced knockouts provide insights into human L1 syndrome.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

[X-linked hereditary spastic paraplegia due to mutation in the L1CAM gene: three cases reports of CRASH syndrome].

L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

Dental Treatment Considerations for Children with Complex Medical Histories: A Case of Townes-Brock Syndrome.

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

Arthroscopic interposition in thumb carpometacarpal osteoarthritis: A series of 26 cases.

Prenatal diagnosis of X-linked hydrocephalus in a family with a novel mutation in L1CAM gene.

The Effect of a Bone Tunnel During Ligament Reconstruction for Trapeziometacarpal Osteoarthritis: A 5-Year Follow-up.

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.

The effectiveness of passive physical modalities for the management of soft tissue injuries and neuropathies of the wrist and hand: a systematic review by the Ontario Protocol for Traffic Injury Management (OPTIMa) collaboration.

Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

HOXA genes cluster: clinical implications of the smallest deletion.

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes.

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.