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Showing 1 to 12 of 40 entries
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Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan.

Medicines (Basel, Switzerland)

Al Kaissi A, Shboul M, Kenis V, Grill F, Ganger R, Kircher SG.
PMID: 31146331
Medicines (Basel). 2019 May 29;6(2). doi: 10.3390/medicines6020060.

No abstract available.

Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome.

Case reports in orthopedics

Kozhevnikov O, Kralina S, Yurasova Y, Kenis V, Kircher SG, Al Kaissi A.
PMID: 32733727
Case Rep Orthop. 2020 Jul 10;2020:8747392. doi: 10.1155/2020/8747392. eCollection 2020.

PURPOSE: Progressive deformity of the lower limbs can be encountered in a long list of syndromic associations. The baseline tool in the management of such disorders is to approach to a definite diagnosis.METHODS: We describe a 4-year-old girl who...

The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva.

Journal of clinical medicine research

Al Kaissi A, Kenis V, Ben Ghachem M, Hofstaetter J, Grill F, Ganger R, Kircher SG.
PMID: 26858800
J Clin Med Res. 2016 Mar;8(3):246-53. doi: 10.14740/jocmr2465w. Epub 2016 Jan 26.

BACKGROUND: The clinical presentation, phenotypic characterization and natural history of fibrodysplasia ossificans progressiva (FOP) are diverse and the natural history of the disease is, to a certain extent, different from one patient to another.METHODS: In a series of 11...

Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome.

Medicines (Basel, Switzerland)

Kaissi AA, Bouchoucha S, Shboul M, Kenis V, Grill F, Ganger R, Kircher SG.
PMID: 31067823
Medicines (Basel). 2019 May 07;6(2). doi: 10.3390/medicines6020054.

No abstract available.

Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example.

Minerva pediatrica

Al Kaissi A, Ryabykh S, Ochirova P, Bouchoucha S, Kenis V, Shboul M, Ganger R, Grill F, Kircher SG.
PMID: 32536119
Minerva Pediatr. 2020 Jun 12; doi: 10.23736/S0026-4946.20.05796-5. Epub 2020 Jun 12.

BACKGROUND: Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures...

A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation.

African journal of paediatric surgery : AJPS

Al Kaissi A, Ghachem MB, Kenis V, Melchenko E, Grill F, Ganger R, Kircher SG.
PMID: 32952136
Afr J Paediatr Surg. 2019 Jan-Mar;16(1):23-28. doi: 10.4103/ajps.AJPS_90_17.

BACKGROUND: Trendelenburg's gait can be observed in Legg-Calvé-Perthes disease, antalgic gait observed in osteoarthropathy and waddling gait is usually seen in genu varum and circumduction gait in patients with genu valgum. Disabling pain was a prime manifestation in slipped...


The annals of applied statistics

Zhang S, Midthune D, Guenther PM, Krebs-Smith SM, Kipnis V, Dodd KW, Buckman DW, Tooze JA, Freedman L, Carroll RJ.
PMID: 21804910
Ann Appl Stat. 2011 Jun 01;5(2):1456-1487. doi: 10.1214/10-AOAS446.

In the United States the preferred method of obtaining dietary intake data is the 24-hour dietary recall, yet the measure of most interest is usual or long-term average daily intake, which is impossible to measure. Thus, usual dietary intake...

Can we use biomarkers in combination with self-reports to strengthen the analysis of nutritional epidemiologic studies?.

Epidemiologic perspectives & innovations : EP+I

Freedman LS, Kipnis V, Schatzkin A, Tasevska N, Potischman N.
PMID: 20180978
Epidemiol Perspect Innov. 2010 Jan 20;7(1):2. doi: 10.1186/1742-5573-7-2.

Identifying diet-disease relationships in nutritional cohort studies is plagued by the measurement error in self-reported intakes. The authors propose using biomarkers known to be correlated with dietary intake, so as to strengthen analyses of diet-disease hypotheses. The authors consider...

An evaluation of the serum carbon isotope ratio as a candidate predictive biomarker for dietary animal protein ratio (animal protein/total protein) in a 15-d controlled feeding study of US adults.

The American journal of clinical nutrition

O'Brien DM, Sagi-Kiss V, Duran SAP, Cunningham C, Barrett B, Johnston CS, Midthune D, Kipnis V, Freedman LS, Tasevska N.
PMID: 35030258
Am J Clin Nutr. 2022 Jan 14; doi: 10.1093/ajcn/nqac004. Epub 2022 Jan 14.

BACKGROUND: The serum natural abundance carbon isotope ratio (CIR) was recently identified as a candidate biomarker of animal protein intake in postmenopausal women. Such a biomarker would help clarify the relationship between dietary protein source (plant vs. animal) and...

Longitudinal functional additive model with continuous proportional outcomes for physical activity data.

Stat (International Statistical Institute)

Li H, Kozey-Keadle S, Kipnis V, Carroll RJ.
PMID: 27904749
Stat (Int Stat Inst). 2016;5(1):242-250. doi: 10.1002/sta4.121. Epub 2016 Oct 04.

Motivated by physical activity data obtained from the BodyMedia FIT device (, we take a functional data approach for longitudinal studies with continuous proportional outcomes. The functional structure depends on three factors. In our three-factor model, the regression structures...

Methods to Assess Measurement Error in Questionnaires of Sedentary Behavior.

Journal of applied statistics

Sampson JN, Matthews CE, Freedman L, Carroll RJ, Kipnis V.
PMID: 27340315
J Appl Stat. 2016;43(9):1706-1721. doi: 10.1080/02664763.2015.1117593. Epub 2016 Mar 17.

Sedentary behavior has already been associated with mortality, cardiovascular disease, and cancer. Questionnaires are an affordable tool for measuring sedentary behavior in large epidemiological studies. Here, we introduce and evaluate two statistical methods for quantifying measurement error in questionnaires....

Broad spectrum of skeletal malformation complex in patients with cleidocranial dysplasia syndrome: radiographic and tomographic study.

Clinical medicine insights. Arthritis and musculoskeletal disorders

Al Kaissi A, Ben Chehida F, Kenis V, Ganger R, Radler C, Hofstaetter JG, Klaushofer K, Grill F.
PMID: 24023524
Clin Med Insights Arthritis Musculoskelet Disord. 2013 Aug 19;6:45-55. doi: 10.4137/CMAMD.S11933. eCollection 2013.

PURPOSE: Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine...

Showing 1 to 12 of 40 entries