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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

The New England journal of medicine, 2013-05, Vol.368 (19), p.1809-1816

2013

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672

2011

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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

Clinical genetics, 2017-08, Vol.92 (2), p.158-165

2017

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Both the frequency of HbA1c testing and the frequency of self‐monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from Germany and Austria

Diabetes/metabolism research and reviews, 2017-10, Vol.33 (7), p.n/a

2017

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Type 2 diabetes from pediatric to geriatric age: analysis of gender and obesity among 120,183 patients from the German/Austrian DPV database

European journal of endocrinology, 2012-08, Vol.167 (2), p.245-254

2012

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Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Genetics in medicine, 2016-06, Vol.18 (6), p.570-576

2016

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Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton

Gene Expression Patterns, 2015-09, Vol.19 (1-2), p.60-69

2015

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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

American journal of human genetics, 1999-08, Vol.65 (2), p.308-317

1999

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Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias

Ultrasound in obstetrics & gynecology, 2003-05, Vol.21 (5), p.467-472

2003

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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Clinical genetics, 2012-08, Vol.82 (2), p.121-130

2012

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Association of physical activity with glycaemic control and cardiovascular risk profile in 65 666 people with Type 2 diabetes from Germany and Austria

Diabetic medicine, 2014-08, Vol.31 (8), p.905-912

2014

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Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

Human molecular genetics, 2008-03, Vol.17 (5), p.631-641

2008

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The skeletal dysplasias

Genetics in medicine, 2010-06, Vol.12 (6), p.327-341

2010

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Nosology of genetic skeletal disorders: 2023 revision

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1164-1209

2023

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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Genetics in medicine, 2009-02, Vol.11 (2), p.127-133

2009

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Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

Prenatal diagnosis, 2009-02, Vol.29 (2), p.172-174

2009

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Lean diabetes: A joint analysis of the German DIVE and DPV registries

Diabetologie und Stoffwechsel, 2017-05, Vol.12 (S 01), p.S1-S84

2017

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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

The Journal of clinical investigation, 2005-09, Vol.115 (9), p.2373-2381

2005

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Both the frequency of HbA1c testing and the frequency of self-monitoring of blood glucose predict metabolic control: A multicentre analysis of 15ￂ 199 adult type 1 diabetes patients from Germany and Austria

Diabetes/metabolism research and reviews, 2017-10, Vol.33 (7)

2017

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Both the frequency of HbA 1c testing and the frequency of self‐monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from G ermany and A ustria

Diabetes/metabolism research and reviews, 2017-10, Vol.33 (7)

2017

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Die Häufigkeit der HbA1c-Messungen und die Häufigkeit der Blutzuckerselbstmessungen beeinflussen die Stoffwechseleinstellung! Ergebnisse einer multizentrischen Studie mit 15.199 erwachsenen Typ-1-Diabetes Patienten aus der DPV-Datenbank

Diabetologie und Stoffwechsel, 2016, Vol.11 (S 01)

2016

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Femur length and trisomy 21: impact of gestational age on screening efficiency

Ultrasound in obstetrics & gynecology, 2000-08, Vol.16 (2), p.142-145

2000

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Skeletal Dysplasias

Clinics in perinatology, 2015-06, Vol.42 (2), p.301-319

Krakow, Deborah, MD

2015

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Nature genetics, 2004-04, Vol.36 (4), p.405-410

2004

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WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

Both the frequency of HbA1c testing and the frequency of self‐monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from Germany and Austria

Type 2 diabetes from pediatric to geriatric age: analysis of gender and obesity among 120,183 patients from the German/Austrian DPV database

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Collagen duplicate genes of bone and cartilage participate during regeneration of zebrafish fin skeleton

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Use of three‐dimensional ultrasound imaging in the diagnosis of prenatal‐onset skeletal dysplasias

Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Association of physical activity with glycaemic control and cardiovascular risk profile in 65 666 people with Type 2 diabetes from Germany and Austria

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

The skeletal dysplasias

Nosology of genetic skeletal disorders: 2023 revision

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

Lean diabetes: A joint analysis of the German DIVE and DPV registries

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Both the frequency of HbA1c testing and the frequency of self-monitoring of blood glucose predict metabolic control: A multicentre analysis of 15ￂ 199 adult type 1 diabetes patients from Germany and Austria

Both the frequency of HbA 1c testing and the frequency of self‐monitoring of blood glucose predict metabolic control: A multicentre analysis of 15 199 adult type 1 diabetes patients from G ermany and A ustria

Die Häufigkeit der HbA1c-Messungen und die Häufigkeit der Blutzuckerselbstmessungen beeinflussen die Stoffwechseleinstellung! Ergebnisse einer multizentrischen Studie mit 15.199 erwachsenen Typ-1-Diabetes Patienten aus der DPV-Datenbank

Femur length and trisomy 21: impact of gestational age on screening efficiency

Skeletal Dysplasias

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

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