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Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome

Clinical genetics, 2008-01, Vol.73 (1), p.79-84

2008

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Uniparental disomy: clinical indications for testing in growth retardation

European journal of pediatrics, 2002-06, Vol.161 (6), p.305-312

2002

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Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

Journal of medical genetics, 2006-07, Vol.43 (7), p.615-616

2006

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Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Journal of medical genetics, 2005-05, Vol.42 (5), p.e26-e26

2005

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Intrauterine growth restriction: definition and etiology

Hormone research, 1998-01, Vol.49 Suppl 2 (Suppl. 2), p.1-6

Wollmann, H A

1998

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IGF-II Serum Levels Are Normal in Children with Silver-Russell Syndrome Who Frequently Carry Epimutations at the IGF2 Locus

The journal of clinical endocrinology and metabolism, 2006-11, Vol.91 (11), p.4709-4712

2006

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Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

Human molecular genetics, 2000-07, Vol.9 (11), p.1587-1595

2000

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Discontinuation of Growth Hormone (GH) Treatment during the Transition Phase Is an Important Factor Determining the Phenotype of Young Adults with Nonidiopathic Childhood-Onset GH Deficiency

The journal of clinical endocrinology and metabolism, 2010-06, Vol.95 (6), p.2646-2654

2010

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Growth hormone treatment of short children born small for gestational age : Growth responses with continuous and discontinuous regimens over 6 years

The journal of clinical endocrinology and metabolism, 2000-08, Vol.85 (8), p.2816-2821

2000

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Segmental maternal UPD(7q) in Silver-Russell syndrome

Clinical genetics, 2008-11, Vol.74 (5), p.486-489

2008

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Cognitive development in Silver–Russell syndrome: a sibling-controlled study

Developmental medicine and child neurology, 2004-05, Vol.46 (5), p.340-346

2004

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Short stature in Duchenne muscular dystrophy: a study of 34 patients

Acta Paediatrica, 1999-01, Vol.88 (1), p.62-65

1999

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Results from an international multicenter trial evaluating the ease-of-use of and preference for a newly developed disposable injection pen for the treatment of growth hormone deficiency in treatment-naïve children and adults

Medical devices (Auckland, N.Z.), 2014-01, Vol.7 (default), p.61-71

2014

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Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

Journal of medical genetics, 2001-02, Vol.38 (2), p.86-89

2001

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CYP11B1 Mutations Causing Non-Classic Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Human molecular genetics, 1997-10, Vol.6 (11), p.1829-1834

1997

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Molecular studies in 37 Silver-Russell syndrome patients : frequency and etiology of uniparental disomy

Human genetics, 1997-09, Vol.100 (3-4), p.415-419

1997

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Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications

Clinical endocrinology (Oxford), 2002-02, Vol.56 (2), p.231-238

2002

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Growth and symptoms in Silver-Russell syndrome : review on the basis of 386 patients

European journal of pediatrics, 1995-12, Vol.154 (12), p.958-968

1995

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Growth hormone and growth factors during perinatal life

Hormone research, 2000, Vol.53 Suppl 1 (Suppl. 1), p.50-54

Wollmann, H A

2000

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Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients

Journal of medical genetics, 2003-05, Vol.40 (5), p.e65-65

2003

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IGF-I and IGF binding protein-3 levels during initial GH dosage step-up are indicators of GH sensitivity in GH-deficient children and short children born small for gestational age

Hormone research, 2005-01, Vol.64 (2), p.68-76

2005

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Searching for genomic variants in IGF2 and CDKN1C in Silver–Russell syndrome patients

Molecular genetics and metabolism, 2004-07, Vol.82 (3), p.246-250

2004

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Reference values for height and weight in Prader-Willi syndrome based on 315 patients

European journal of pediatrics, 1998-08, Vol.157 (8), p.634-642

1998

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Significance of basal IGF-I, IGFBP-3 and IGFBP-2 measurements in the diagnostics of short stature in children

Hormone research, 2000-01, Vol.54 (2), p.60-68

2000

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Genomic characterisation of C7orf10 in Silver-Russell syndrome patients

Journal of medical genetics, 2003-04, Vol.40 (4), p.e44-44

2003

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Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome

Uniparental disomy: clinical indications for testing in growth retardation

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Intrauterine growth restriction: definition and etiology

IGF-II Serum Levels Are Normal in Children with Silver-Russell Syndrome Who Frequently Carry Epimutations at the IGF2 Locus

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion

Discontinuation of Growth Hormone (GH) Treatment during the Transition Phase Is an Important Factor Determining the Phenotype of Young Adults with Nonidiopathic Childhood-Onset GH Deficiency

Growth hormone treatment of short children born small for gestational age : Growth responses with continuous and discontinuous regimens over 6 years

Segmental maternal UPD(7q) in Silver-Russell syndrome

Cognitive development in Silver–Russell syndrome: a sibling-controlled study

Short stature in Duchenne muscular dystrophy: a study of 34 patients

Results from an international multicenter trial evaluating the ease-of-use of and preference for a newly developed disposable injection pen for the treatment of growth hormone deficiency in treatment-naïve children and adults

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

CYP11B1 Mutations Causing Non-Classic Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Molecular studies in 37 Silver-Russell syndrome patients : frequency and etiology of uniparental disomy

Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications

Growth and symptoms in Silver-Russell syndrome : review on the basis of 386 patients

Growth hormone and growth factors during perinatal life

Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients

IGF-I and IGF binding protein-3 levels during initial GH dosage step-up are indicators of GH sensitivity in GH-deficient children and short children born small for gestational age

Searching for genomic variants in IGF2 and CDKN1C in Silver–Russell syndrome patients

Reference values for height and weight in Prader-Willi syndrome based on 315 patients

Significance of basal IGF-I, IGFBP-3 and IGFBP-2 measurements in the diagnostics of short stature in children

Genomic characterisation of C7orf10 in Silver-Russell syndrome patients

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