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5. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, Wesley J., Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., and Visser, Wesley J.

Abstract

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access), BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1.5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24.0 months (IQR 12.0-60.0, range 0.0-744.0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35.0 years (95% CI 8.3-61.7). Individuals who did not attain head control by age 1.5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3.46, 95% CI 1.76-8.34; log-rank test p=0.0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

6. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, and Visser, WE

Abstract

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

11. Primary Familial Hyperaldosteronism Type 1 in Hypertensive Children: Prevalence, Clinical and Biochemical Characteristics.

Author

Garcia, H, primary, Aglony, M, additional, Martinez, A, additional, Carvajal, C, additional, Campino, C, additional, Bolte, L, additional, Avalos, C, additional, Bancalari, R, additional, Loureiro, C, additional, Brinkman, K, additional, Giadrosich, V, additional, Mericq, V, additional, Rocha, A, additional, and Fardella, C, additional

Published
2010
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15. Use of Gonadotropin-Releasing Hormone Analogs in Children:Update by an International Consortium

Author

Bangalore Krishna, Kanthi, Fuqua, John S, Rogol, Alan D, Klein, Karen O, Popovic, Jadranka, Houk, Christopher P, Charmandari, Evangelia, Lee, Peter A, Freire, A V, Ropelato, M G, Yazid Jalaludin, M, Mbogo, J, Kanaka-Gantenbein, C, Luo, X, Eugster, E A, Klein, K O, Vogiatzi, M G, Reifschneider, K, Bamba, V, Garcia Rudaz, C, Kaplowitz, P, Backeljauw, P, Allen, D B, Palmert, M R, Harrington, J, Guerra-Junior, G, Stanley, T, Torres Tamayo, M, Miranda Lora, A L, Bajpai, A, Silverman, L A, Miller, B S, Dayal, A, Horikawa, R, Oberfield, S, Rogol, A D, Tajima, T, Popovic, J, Witchel, S F, Rosenthal, S M, Finlayson, C, Hannema, S E, Castilla-Peon, M F, Mericq, V, and Medina Bravo, P G

Subjects
Male, medicine.medical_specialty, Future studies, Adolescent, Pediatric endocrinology, Endocrinology, Diabetes and Metabolism, Puberty, Precocious, 030209 endocrinology & metabolism, Gonadotropin-releasing hormone, Gonadotropin-Releasing Hormone, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Transgender, medicine, Precocious puberty, Humans, Adverse effect, Child, 030219 obstetrics & reproductive medicine, business.industry, medicine.disease, Family medicine, Pediatrics, Perinatology and Child Health, Narrative review, Female, Outcome data, business
Abstract

This update, written by authors designated by multiple pediatric endocrinology societies (see List of Participating Societies) from around the globe, concisely addresses topics related to changes in GnRHa usage in children and adolescents over the last decade. Topics related to the use of GnRHa in precocious puberty include diagnostic criteria, globally available formulations, considerations of benefit of treatment, monitoring of therapy, adverse events, and long-term outcome data. Additional sections review use in transgender individuals and other pediatric endocrine related conditions. Although there have been many significant changes in GnRHa usage, there is a definite paucity of evidence-based publications to support them. Therefore, this paper is explicitly not intended to evaluate what is recommended in terms of the best use of GnRHa, based on evidence and expert opinion, but rather to describe how these drugs are used, irrespective of any qualitative evaluation. Thus, this paper should be considered a narrative review on GnRHa utilization in precocious puberty and other clinical situations. These changes are reviewed not only to point out deficiencies in the literature but also to stimulate future studies and publications in this area.

Published
2019
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18. Abstract P4-10-14: Impact of route of administration of estradiol (oral vs. transdermal) on genotoxic estrogens concentrations in girls with ovarian failure due to Turner syndrome: Potential implications for breast cancer prevention

Author

Colon-Otero, G, primary, Torres-Santiago, L, additional, Santen, R, additional, Mericq, V, additional, Ross, J, additional, Damaso, L, additional, Hossain, J, additional, Wang, Q, additional, Mesaros, C, additional, Blair, IA, additional, and Mauras, N, additional

Published
2019
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20. Insulin Resistance in Children: Consensus, Perspective, and Future Directions

Author

Levy Marchal, C., Arslanian, S., Cutfield, W., Sinaiko, A., Druet, C., Marcovecchio, M. L., Chiarelli, F., Amemiyia, S., Berenson, G., Caprio, S., Charles, M. A., Cook, S., Davis, E., Dolan, L., Dunger, D., Fagot Campagna, A., Flodmark, C. E., Ford, E., Gautier, J. F., Goodman, E., Goran, M., Haymond, M., Hofman, P., Hokken Koelega, A., Ibanez, L., Lee, S., Maffeis, Claudio, Mericq, V., Metzger, B., Norgren, S., Ong, K., Pettitt, D., Rudolf, M., Schwimmer, J., Steinberg, J., Weiss, R., and Yajnik, C.

Subjects
Adult, Dietary Fiber, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, MEDLINE, Risk Assessment, Biochemistry, Childhood obesity, Endocrinology, Insulin resistance, Risk Factors, Fat-Restricted, Internal medicine, Diabetes mellitus, Health care, Diabetes Mellitus, medicine, Humans, Mass Screening, Obesity, Child, Diet, Fat-Restricted, Exercise, Life Style, Mass screening, business.industry, Insulin, Biochemistry (medical), Consensus Statement, medicine.disease, Dietary Fats, Adolescent, Adult, Child, Diabetes Mellitus, Type 2, epidemiology, Diet, Fat-Restricted, Dietary Fats, Dietary Fiber, Energy Intake, Exercise, Humans, Insulin Resistance, physiology, Life Style, Mass Screening, complications/epidemiology/prevention /&/ control, Risk Assessment, Risk Factors, obesity, Diet, Diabetes Mellitus, Type 2, physiology, epidemiology, Insulin Resistance, complications/epidemiology/prevention /&/ control, Energy Intake, business, Risk assessment
Abstract

Objective: Emerging data indicate that insulin resistance is common among children and adolescents and is related to cardiometabolic risk, therefore requiring consideration early in life. However, there is still confusion on how to define insulin resistance, how to measure it, what its risk factors are, and whether there are effective strategies to prevent and treat it. A consensus conference was organized in order to clarify these points. Participants: The consensus was internationally supported by all the major scientific societies in pediatric endocrinology and 37 participants. Evidence: An independent and systematic search of the literature was conducted to identify key articles relating to insulin resistance in children. Consensus Process: The conference was divided into five themes and working groups: background and definition; methods of measurement and screening; risk factors and consequences; prevention; and treatment. Each group selected key issues, searched the literature, and developed a draft document. During a 3-d meeting, these papers were debated and finalized by each group before presenting them to the full forum for further discussion and agreement. Conclusions: Given the current childhood obesity epidemic, insulin resistance in children is an important issue confronting health care professionals. There are no clear criteria to define insulin resistance in children, and surrogate markers such as fasting insulin are poor measures of insulin sensitivity. Based on current screening criteria and methodology, there is no justification for screening children for insulin resistance. Lifestyle interventions including diet and exercise can improve insulin sensitivity, whereas drugs should be implemented only in selected cases.

Published
2010
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21. An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome

Author

Bruin, C. (Christiaan) de, Mericq, V. (Veronica), Andrew, S.F. (Shayne F.), Duyvenvoorde, H.A. (Hermine) van, Verkaik, N.S. (Nicole), Losekoot, M. (Monique), Porollo, A. (Aleksey), Garcia, H. (Hernán), Kuang, Y. (Yi), Hanson, D. (Dan), Clayton, P.E. (P.), Gent, D.C. (Dik) van, Wit, J.M. (Jan), Hwa, V. (Vivian), Dauber, A. (Andrew), Bruin, C. (Christiaan) de, Mericq, V. (Veronica), Andrew, S.F. (Shayne F.), Duyvenvoorde, H.A. (Hermine) van, Verkaik, N.S. (Nicole), Losekoot, M. (Monique), Porollo, A. (Aleksey), Garcia, H. (Hernán), Kuang, Y. (Yi), Hanson, D. (Dan), Clayton, P.E. (P.), Gent, D.C. (Dik) van, Wit, J.M. (Jan), Hwa, V. (Vivian), and Dauber, A. (Andrew)

Abstract

Copyright

Published
2015
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22. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, S.M., Dauber, A., Munnik, S. de, Connolly, M., Hood, R.L., Caluseriu, O., Hurst, J., Kini, U., Nowaczyk, M.J., Afenjar, A., Albrecht, B., Allanson, J.E., Balestri, P., Ben-Omran, T., Brancati, F., Cordeiro, I., Cunha, B.S. da, Delaney, L.A., Destrée, A.F., D., Forzano, F., Ghali, N., Gillies, G., Harwood, K., Hendriks, Y.M., Heéron, D., Hoischen, A., Honey, E.M., Hoefsloot, L.H., Ibrahim, J., Jacob, C.M., Kant, S.G., Kim, C.A., Kirk, E.P., Knoers, N.V.A.M., Lacombe, D., Lee, C., Lo, I.F., Lucas, L.S., Mari, F., Mericq, V., Moilanen, J.S., Moller, S.T., Moortgat, S., Pilz, D.T., Pope, K., Price, S., Renieri, A., Sá, J., Schoots, J., Silveira, E.L., Simon, M.E., Slavotinek, A., Temple, I.K., Burgt, I. van der, Vries, L.B.A. de, Weisfeld-Adams, J.D., Whiteford, M.L., Wierczorek, D., Wit, J.M., Yee, C.F., Beaulieu, C.L., White, S.M., Bulman, D.E., Bongers, E., Brunner, H.G., and Boycott, K.M.

Subjects
Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Abstract

Contains fulltext : 140422.pdf (Publisher’s version ) (Open Access)

Published
2013

24. Copy number variations in patients with idiopathic short stature

Author

van Duyvenvoorde, H.A., Lui, J., Kant, S.G., Oostdijk, W., Gijsbers, A.C.J., Karperien, M., Walenkamp, M.J.E., Noordam, C., Voorhoeve, P.G., Mericq, V., van Gool, S.A., Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A., Wit, J.M., Faculty of Science and Technology, and Developmental BioEngineering

Published
2012

25. Copy number variants in patients with short stature

Author

Duyvenvoorde, H.A. van, Lui, J.C., Kant, S.G., Oostdijk, W., Gijsbers, A.C., Hoffer, M.J.V., Karperien, M., Walenkamp, M.J., Noordam, C., Voorhoeve, P.G., Mericq, V., Pereira, A.M., Claahsen-van der Grinten, H.L., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A., Wit, J.M., Duyvenvoorde, H.A. van, Lui, J.C., Kant, S.G., Oostdijk, W., Gijsbers, A.C., Hoffer, M.J.V., Karperien, M., Walenkamp, M.J., Noordam, C., Voorhoeve, P.G., Mericq, V., Pereira, A.M., Claahsen-van der Grinten, H.L., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A., and Wit, J.M.

Abstract

Item does not contain fulltext, Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height. Genetic analysis of short individuals can lead to the discovery of novel rare gene defects with a large effect on growth. In an effort to identify novel genes associated with short stature, genome-wide analysis for copy number variants (CNVs), using single-nucleotide polymorphism arrays, in 162 patients (149 families) with short stature was performed. Segregation analysis was performed if possible, and genes in CNVs were compared with information from GWAS, gene expression in rodents' growth plates and published information. CNVs were detected in 40 families. In six families, a known cause of short stature was found (SHOX deletion or duplication, IGF1R deletion), in two combined with a de novo potentially pathogenic CNV. Thirty-three families had one or more potentially pathogenic CNVs (n=40). In 24 of these families, segregation analysis could be performed, identifying three de novo CNVs and nine CNVs segregating with short stature. Four were located near loci associated with height in GWAS (ADAMTS17, TULP4, PRKG2/BMP3 and PAPPA). Besides six CNVs known to be causative for short stature, 40 CNVs with possible pathogenicity were identified. Segregation studies and bioinformatics analysis suggested various potential candidate genes.

Published
2014

29. The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, S.M. (Sarah), Dauber, A. (Andrew), Munnik, S.A. (Sonja) de, Connolly, M. (Meghan), Hood, R.L. (Rebecca L), Caluseriu, O. (Oana), Hurst, J.A. (Jane), Kini, U. (Usha), Nowaczyk, M.J.M., Afenjar, A. (Alexandra), Albrecht, B., Allanson, J.E. (Judith), Balestri, P. (Paolo), Ben-Omran, T. (Tawfeg), Brancati, F. (Fred), Cordeiro, I. (Isabel), Da Cunha, B.S. (Bruna Santos), Delaney, P.F. (Peter), Destrée, A. (Anne), Fitzpatrick, D.R. (David), Forzano, F. (Francesca), Ghali, N. (Neeti), Gillies, G. (Greta), Harwood, J., Hendriks, Y., Héron, D. (Delphine), Hoischen, A. (Alex), Honey, E.M. (Engela Magdalena), Hoefsloot, E.H. (Lies), Ibrahim, J. (Jennifer), Jacob, C. (Claire), Kant, S.G. (Sarina), Kim, C.A. (Chong), Kirk, E.P. (Edwin P), Knoers, N.V.A.M. (Nine), Lacombe, D. (Denis), Lee, C.Y. (Chung-Yee), Lo, I.F.M. (Ivan F M), Lucas, L.S. (Luiza S), Mari, F. (Francesca), Mericq, V. (Veronica), Moilanen, J.S. (Jukka S), Møller, S.T. (Sanne Traasdahl), Moortgat, S. (Stephanie), Pilz, D.T. (Daniela), Pope, K. (Kate), Price, S. (Susan), Renieri, A. (Alessandra), Sá, J. (Joaquim), Schoots, J. (Jeroen), Silveira, E.L. (Elizabeth L), Simon, M.E.H. (Marleen), Slavotinek, A. (Anne), Temple, I.K., Burgt, I. (Ineke) van der, Vries, B.B.A. (Bert) de, Weisfeld-Adams, J.D. (James D), Whiteford, M.L. (Margo L), Wierczorek, D. (Dagmar), Wit, J.M. (Jan), Yee, C.F.O. (Connie Fung On), Beaulieu, P. (Patrick), White, S.M. (Sue M), Bulman, B., Bongers, E. (Ernie), Brunner, H. (Han), Feingold, M. (Murray), Boycott, K.M. (Kym), Nikkel, S.M. (Sarah), Dauber, A. (Andrew), Munnik, S.A. (Sonja) de, Connolly, M. (Meghan), Hood, R.L. (Rebecca L), Caluseriu, O. (Oana), Hurst, J.A. (Jane), Kini, U. (Usha), Nowaczyk, M.J.M., Afenjar, A. (Alexandra), Albrecht, B., Allanson, J.E. (Judith), Balestri, P. (Paolo), Ben-Omran, T. (Tawfeg), Brancati, F. (Fred), Cordeiro, I. (Isabel), Da Cunha, B.S. (Bruna Santos), Delaney, P.F. (Peter), Destrée, A. (Anne), Fitzpatrick, D.R. (David), Forzano, F. (Francesca), Ghali, N. (Neeti), Gillies, G. (Greta), Harwood, J., Hendriks, Y., Héron, D. (Delphine), Hoischen, A. (Alex), Honey, E.M. (Engela Magdalena), Hoefsloot, E.H. (Lies), Ibrahim, J. (Jennifer), Jacob, C. (Claire), Kant, S.G. (Sarina), Kim, C.A. (Chong), Kirk, E.P. (Edwin P), Knoers, N.V.A.M. (Nine), Lacombe, D. (Denis), Lee, C.Y. (Chung-Yee), Lo, I.F.M. (Ivan F M), Lucas, L.S. (Luiza S), Mari, F. (Francesca), Mericq, V. (Veronica), Moilanen, J.S. (Jukka S), Møller, S.T. (Sanne Traasdahl), Moortgat, S. (Stephanie), Pilz, D.T. (Daniela), Pope, K. (Kate), Price, S. (Susan), Renieri, A. (Alessandra), Sá, J. (Joaquim), Schoots, J. (Jeroen), Silveira, E.L. (Elizabeth L), Simon, M.E.H. (Marleen), Slavotinek, A. (Anne), Temple, I.K., Burgt, I. (Ineke) van der, Vries, B.B.A. (Bert) de, Weisfeld-Adams, J.D. (James D), Whiteford, M.L. (Margo L), Wierczorek, D. (Dagmar), Wit, J.M. (Jan), Yee, C.F.O. (Connie Fung On), Beaulieu, P. (Patrick), White, S.M. (Sue M), Bulman, B., Bongers, E. (Ernie), Brunner, H. (Han), Feingold, M. (Murray), and Boycott, K.M. (Kym)

Abstract

Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2

Published
2013
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30. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Author

Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E, Brunner, H, Feingold, M, Boycott, KM, Nikkel, SM, Dauber, A, de Munnik, S, Connolly, M, Hood, RL, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, MJM, Afenjar, A, Albrecht, B, Allanson, JE, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, BS, Delaney, LA, Destree, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, YMC, Heron, D, Hoischen, A, Honey, EM, Hoefsloot, LH, Ibrahim, J, Jacob, CM, Kant, SG, Kim, CA, Kirk, EP, Knoers, NVAM, Lacombe, D, Lee, C, Lo, IFM, Lucas, LS, Mari, F, Mericq, V, Moilanen, JS, Moller, ST, Moortgat, S, Pilz, DT, Pope, K, Price, S, Renieri, A, Sa, J, Schoots, J, Silveira, EL, Simon, MEH, Slavotinek, A, Temple, IK, van der Burgt, I, de Vries, BBA, Weisfeld-Adams, JD, Whiteford, ML, Wierczorek, D, Wit, JM, Yee, CFO, Beaulieu, CL, White, SM, Bulman, DE, Bongers, E, Brunner, H, Feingold, M, and Boycott, KM

Abstract

BACKGROUND: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. METHODS AND RESULTS: Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. CONCLUSIONS: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Published
2013

32. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype

Author

Flanagan, S. E., primary, Mackay, D. J. G., additional, Greeley, S. A. W., additional, McDonald, T. J., additional, Mericq, V., additional, Hassing, J., additional, Richmond, E. J., additional, Martin, W. R., additional, Acerini, C., additional, Kaulfers, A. M., additional, Flynn, D. P., additional, Popovic, J., additional, Sperling, M. A., additional, Hussain, K., additional, Ellard, S., additional, and Hattersley, A. T., additional

Published
2012
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33. P01-45 Twenty-four months efficacy and safety of LB03002, a new sustained release formulation of rhGH, in children with GHD: Extension of a phase III randomized multicentre study

Author

Saenger, P., primary, Khadilkar, V., additional, Radjuk, K.A., additional, Bolshova, E., additional, Khadgawat, R., additional, El Kholy, M., additional, Desai, M., additional, Peterkova, V., additional, Mericq, V., additional, Ji, H.-J., additional, Bae, Y.J., additional, Lopez, P., additional, and Martin, D., additional

Published
2012
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34. OR14,84 Twelve months safety and efficacy of LB03002, a new prolonged release formulation of rhGH, as compared to daily rhGH therapy in treatment-naïve children with growth failure due to insufficient secretion of endogenous growth hormone (GHD)

Author

Saenger, P.H., primary, Khadilkar, V., additional, Radjuk, K.A., additional, Bolshova, E., additional, Khadgawat, R., additional, El Kholy, M., additional, Peterkova, V., additional, Desai, M., additional, Mericq, V., additional, Savoy, C., additional, Ji, H.-J., additional, Zadik, Z., additional, Kratzsch, J., additional, and Bidlingmaier, M., additional

Published
2010
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36. An Intronic Mutation is Associated with Prolactinoma in a Young Boy, Decreased Penetrance in his Large Family, and Variable Effects onMEN1 mRNAand Protein

Author

Drori-Herishanu, L., primary, Horvath, A., additional, Nesterova, M., additional, Patronas, Y., additional, Lodish, M., additional, Bimpaki, E., additional, Patronas, N., additional, Agarwal, S., additional, Salvatori, R., additional, Martari, M., additional, Mericq, V., additional, and Stratakis, C. A., additional

Published
2009
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