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Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients

Human reproduction (Oxford), 2015-03, Vol.30 (3), p.499-506

2015

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Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

European journal of endocrinology, 2012-05, Vol.166 (5), p.829-838

2012

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Abnormal Basiocciput Development in CHARGE Syndrome

American journal of neuroradiology : AJNR, 2009-03, Vol.30 (3), p.629-634

2009

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Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

The Lancet (British edition), 2019-06, Vol.393 (10189), p.2416-2427

2019

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GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Journal of medical genetics, 2001-06, Vol.38 (6), p.374-380

2001

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Sex-determining gene(s) on distal 9p : Clinical and molecular studies in six cases

The journal of clinical endocrinology and metabolism, 2000-09, Vol.85 (9), p.3094-3100

2000

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Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

Calcified tissue international, 2021-05, Vol.108 (5), p.622-633

2021

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Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level

The journal of clinical endocrinology and metabolism, 2023-11, Vol.108 (11), p.2990-2998

2023

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CRK protein binds to two guanine nucleotide-releasing proteins for the Ras family and modulates nerve growth factor-induced activation of Ras in PC12 cells

Molecular and Cellular Biology, 1994-08, Vol.14 (8), p.5495-5500

1994

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Burosumab Versus Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Sub-group Analysis by Dose Level

The journal of clinical endocrinology and metabolism, 2023, Vol.108 (11), p.2990

2023

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Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

Human genetics, 2000-03, Vol.106 (3), p.306-310

2000

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Patient-reported outcomes from a randomized open-label phase 3 trial comparing burosumab versus conventional therapy in children with X-linked hypophosphatemia: results from the 24-week treatment extension period

HORMONE RESEARCH IN PAEDIATRICS, 2022, Vol.95 (Suppl. 2), p.29

2022

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Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis

Molecular human reproduction, 2001-05, Vol.7 (5), p.409-413

2001

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Nerve growth factor induces rapid accumulation of the GTP-bound form of p21ras in rat pheochromocytoma PC12 cells

Oncogene, 1992-02, Vol.7 (2), p.277-281

1992

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Epidermal Growth Factor-Receptor Mutant Lacking the Autophosphorylation Sites Induces Phosphorylation of Shc Protein and Shc-Grb2/ASH Association and Retains Mitogenic Activity

Proceedings of the National Academy of Sciences - PNAS, 1994-01, Vol.91 (1), p.167-171

1994

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GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

Yearbook of Paediatric Endocrinology, 2022-09

2022

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The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females

Cytogenetic and Genome Research, 2002-01, Vol.99 (1-4), p.276-284

2002

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Female gonadal development in XX patients with distal 9p monosomy

European journal of endocrinology, 2001-11, Vol.145 (5), p.613-617

2001

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Androgen Receptor Gene and Male Genital Anomaly

Archives of andrology, 2002-11, Vol.48 (6), p.461-466

2002

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Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period

JBMR plus, 2024, Vol.8 (1), p.ziad001-ziad001

2024

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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Nature genetics, 1997-05, Vol.16 (1), p.54-63

1997

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Hepatocyte Growth Factor Specifically Expressed in Microglia Activated RAS in the Neurons, Similar to the Action of Neurotrophic Factors

Biochemical and biophysical research communications, 1995-05, Vol.210 (1), p.231-237

1995

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Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development

Human genetics, 2000-11, Vol.107 (5), p.433-439

2000

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Refined mapping of the gene for otopalatodigital syndrome type I

Journal of medical genetics, 2002-02, Vol.39 (2), p.e7-7

2002

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Impaired urinary water excretion in a three-generation family

Pediatric nephrology (Berlin, West), 2001-10, Vol.16 (10), p.820-822

2001

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Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

Abnormal Basiocciput Development in CHARGE Syndrome

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

Sex-determining gene(s) on distal 9p : Clinical and molecular studies in six cases

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level

CRK protein binds to two guanine nucleotide-releasing proteins for the Ras family and modulates nerve growth factor-induced activation of Ras in PC12 cells

Burosumab Versus Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Sub-group Analysis by Dose Level

Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features

Patient-reported outcomes from a randomized open-label phase 3 trial comparing burosumab versus conventional therapy in children with X-linked hypophosphatemia: results from the 24-week treatment extension period

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis

Nerve growth factor induces rapid accumulation of the GTP-bound form of p21ras in rat pheochromocytoma PC12 cells

Epidermal Growth Factor-Receptor Mutant Lacking the Autophosphorylation Sites Induces Phosphorylation of Shc Protein and Shc-Grb2/ASH Association and Retains Mitogenic Activity

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females

Female gonadal development in XX patients with distal 9p monosomy

Androgen Receptor Gene and Male Genital Anomaly

Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

Hepatocyte Growth Factor Specifically Expressed in Microglia Activated RAS in the Neurons, Similar to the Action of Neurotrophic Factors

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development

Refined mapping of the gene for otopalatodigital syndrome type I

Impaired urinary water excretion in a three-generation family

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