Monique Losekoot

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data

Renes Judith S, J Reedijk Ardine M, S Hokken-Koelega Anita C, C Hendriks Yvonne M et autres

Clinical features and growth harmone response in 25 children with duplications in the SHOX region

Floor Roelofsen, Ivo van Bostelen, Sarina G. Kant, Monique Losekoot et autres

Objective: SHOX plays an important role in growth plate development and function. The clinical implications of duplications of the SHOX region remain uncertain. We evaluated phenotypic characteristics, genotype–phenotype correlations and the response to treatment with recombinant human growth hormone (rhGH) in children …

Clinical features and growth harmone response in 25 children with duplications in the SHOX region

Floor Roelofsen, Ivo van Bostelen, Sarina G. Kant, Monique Losekoot et autres

OBJECTIVE: SHOX plays an important role in growth plate development and function. The clinical implications of duplications of the SHOX region remain uncertain. We evaluated phenotypic characteristics, genotype-phenotype correlations and the response to treatment with recombinant human growth hormone (rhGH) in children …

nl, Gabon, jp, au, in, us (code pays fourni par la source)

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington’s disease

Emilia K. Bijlsma, Tamara T. Koopmann, Susanne T. de Bot, Monique Losekoot

Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ request to know their genetic status. Family planning is one …

nl (code pays fourni par la source)

Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature

Anne R Kruijsen, J. M. Wit, Kirsten de Groote, Lauren D Punt et autres

OBJECTIVE: This study aimed to investigate the long-term growth responses to recombinant human growth hormone (rhGH) in children with idiopathic short stature (ISS), decreased insulin-like growth factor I (IGF-1) levels, and a normal stimulated GH peak, after assessing their growth hormone (GH) …

nl, Gabon (code pays fourni par la source)

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data

Judith S. Renes, Ardine Reedijk, Anita Hokken-Koelega, Yvonne Hendriks et autres

CONTEXT: NPR2 plays a critical role in the human growth plate. Heterozygous NPR2 variants result in varying degrees of short stature. Most individuals have no specific clinical findings and are classified as idiopathic short stature. OBJECTIVE: To describe phenotypic characteristics, analyze genotype-phenotype …

Gabon, nl, jp (code pays fourni par la source)

Loss-of-Function GHSR Variants Are Associated With Short Stature and Low IGF-I

Lauren D Punt, Sander Kooijman, Noa J M Mutsters, Kaiming Yue et autres

CONTEXT: The growth hormone (GH) secretagogue receptor, encoded by GHSR, is expressed on somatotrophs of the pituitary gland. Stimulation with its ligand ghrelin, as well as its constitutive activity, enhances GH secretion. Studies in knockout mice suggest that heterozygous loss-of-function of GHSR …

nl, us (code pays fourni par la source)

F008 Prevalence of Juvenile-onset and pediatric huntington disease and their availability and ability to participate in trials: a dutch population and enroll-HD observational study

Hannah S. Bakels, Stephanie Feleus, Mar Rodríguez‐Girondo, Monique Losekoot et autres

Background Juvenile-onset Huntington Disease (JHD) represents 1–5% of HD patients, with onset before the age of 21. Pediatric HD (PHD) relates to a proportion of JHD patients that is still under the age of 18 years. Up to now, the JHD and …

nl (code pays fourni par la source)

Prevalence of Juvenile-Onset and Pediatric Huntington’s Disease and Their Availability and Ability to Participate in Trials: A Dutch Population and Enroll-HD Observational Study

Hannah S. Bakels, Stephanie Feleus, Mar Rodríguez‐Girondo, Monique Losekoot et autres

Background: Juvenile-onset Huntington's disease (JHD) represents 1-5% of Huntington's disease (HD) patients, with onset before the age of 21. Pediatric HD (PHD) relates to a proportion of JHD patients that is still under 18 years of age. So far, both populations have …

nl (code pays fourni par la source)

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients

Lauren D Punt, Daniëlle C M van der Kaay, Petra A. van Setten, Kirsten de Groote et autres

INTRODUCTION: The clinical features of bi-allelic IGF1 defects are well established, i.e., severe growth failure and microcephaly, delayed psychomotor development, and sensorineural deafness. However, information on clinical and endocrine consequences of heterozygous IGF1 variants and treatment options is scarce. We aimed at …

nl (code pays fourni par la source)

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Sjoerd D. Joustra, Emregül Işık, Jan M. Wit, Gönül Çatlı et autres

INTRODUCTION: The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented. METHODS: This observational case series of 42 short children from …

nl, tr, es, gb (code pays fourni par la source)

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data

Judith S. Renes, Ardine Reedijk, Monique Losekoot, Sarina G. Kant et autres

INTRODUCTION: Heterozygous variants in the ACAN gene may underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or early-onset osteoarthritis (OA). METHODS: The objective of this study was to describe phenotype, analyze genotype-phenotype correlations, and assess the response of growth …

nl (code pays fourni par la source)