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Suggested authors matching "AUTH:Wit JM" with an ORCID

Jan Maarten Wit
Sophia Children's Hospital
4
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283
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IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.
Punt LD, van der Kaay DCM, van Setten PA, de Groote K, Kruijsen AR, Bocca G, de Munnik SA, Renes JS, de Bruin C, Losekoot M, van Duyvenvoorde HA, Wit JM, Joustra SD
Horm Res Paediatr, 1-11, 28 Jun 2024
Cited by: 0 articles | PMID: 38952118
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Genetic Findings in Short Turkish Children Born to Consanguineous Parents.
Joustra SD, Isik E, Wit JM, Catli G, Anik A, Haliloglu B, Kandemir N, Ozsu E, Hendriks YMC, de Bruin C, Kant SG, Campos-Barros A, Challis RC, Parry D, Harley ME, Jackson A, Losekoot M, van Duyvenvoorde HA
Horm Res Paediatr, 1-11, 05 Jun 2024
Cited by: 0 articles | PMID: 38838658 | PMCID: PMC7616538
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Identification of novel genes including NAV2 associated with isolated tall stature.
Weiss B, Ott T, Vick P, Lui JC, Roeth R, Vogel S, Waldmüller S, Hoffmann S, Baron J, Wit JM, Rappold GA
Front Endocrinol (Lausanne), 14:1258313, 12 Dec 2023
Cited by: 1 article | PMID: 38152138 | PMCID: PMC10752378
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Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure.
Vlaardingerbroek H, Joustra SD, Oostdijk W, de Bruin C, Wit JM
Horm Res Paediatr, 97(1):11-21, 13 Apr 2023
Cited by: 0 articles | PMID: 37054683
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Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider our diagnostic and treatment policy?
Wit JM, Joustra SD
Eur J Endocrinol, 188(1):lvac005, 01 Jan 2023
Cited by: 0 articles | PMID: 36651155
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Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P, Pals G, Zwinderman AH, Postema FAM, Baars MJH, Dulfer E, Hilhorst-Hofstee Y, Houweling AC, Kempers M, Krapels IPC, van de Laar IMBH, Loeys B, Spaans AMJ, Warnink-Kavelaars J, de Waard V, Wit JM, Menke LA
Am J Med Genet A, 191(2):479-489, 15 Nov 2022
Cited by: 1 article | PMID: 36380655 | PMCID: PMC10099852
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Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
Catli G, Gao W, Foley C, Özyilmaz B, Edeer N, Diniz G, Losekoot M, van Doorn J, Dauber A, Dundar BN, Wit JM, Hwa V
Mol Cell Endocrinol, 559:111799, 17 Oct 2022
Cited by: 3 articles | PMID: 36265659
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A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care
Kardelen AD, Karakılıç Özturan E, Poyrazoğlu Ş, Baş F, Ceylaner S, Joustra SD, Wit JM, Darendeliler F
J Clin Res Pediatr Endocrinol, 15(4):431-437, 25 Apr 2022
Cited by: 0 articles | PMID: 35466665 | PMCID: PMC10683549
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A Novel Method for Adult Height Prediction in Children With Idiopathic Short Stature Derived From a German-Dutch Cohort.
Blum WF, Ranke MB, Keller E, Keller A, Barth S, de Bruin C, Wudy SA, Wit JM
J Endocr Soc, 6(7):bvac074, 06 May 2022
Cited by: 0 articles | PMID: 35668996 | PMCID: PMC9155597
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Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Mericq V, Huang-Doran I, Al-Naqeb D, Basaure J, Castiglioni C, de Bruin C, Hendriks Y, Bertini E, Alkuraya FS, Losekoot M, Al-Rubeaan K, Semple RK, Wit JM
Eur J Endocrinol, 186(5):543-552, 23 Mar 2022
Cited by: 2 articles | PMID: 35234134 | PMCID: PMC9010808
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Ways to Improve the Diagnosis of Growth Hormone Deficiency.
Wit JM, Vliegenthart J, Joustra SD, de Bruin C, Bakker B, van der Kaay DCM, Bocca G
Horm Res Paediatr, 95(1):93-96, 10 Feb 2022
Cited by: 0 articles | PMID: 35144257
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Should Skeletal Maturation Be Manipulated for Extra Height Gain?
Wit JM
Front Endocrinol (Lausanne), 12:812196, 16 Dec 2021
Cited by: 8 articles | PMID: 34975773 | PMCID: PMC8716689
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Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Riquelme J, Takada S, van Dijk T, Peña F, Boogaard MW, van Duyvenvoorde HA, Pico-Knijnenburg I, Wit JM, van der Burg M, Mericq V, Losekoot M
Horm Res Paediatr, 94(11-12):448-455, 27 Oct 2021
Cited by: 3 articles | PMID: 34706368
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Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.
Weiss B, Eberle B, Roeth R, de Bruin C, Lui JC, Paramasivam N, Hinderhofer K, van Duyvenvoorde HA, Baron J, Wit JM, Rappold GA
Front Endocrinol (Lausanne), 12:660731, 04 Jun 2021
Cited by: 3 articles | PMID: 34194391 | PMCID: PMC8237855
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Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
Wit JM, Joustra SD, Losekoot M, van Duyvenvoorde HA, de Bruin C
Horm Res Paediatr, 94(3-4):81-104, 04 Jun 2021
Cited by: 8 articles | PMID: 34091447
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Anthropometric, biochemical and hormonal profiles of the partially admixed pygmoid group in Rampasasa (Flores, Indonesia).
Pulungan A, Andarie AA, Soesanti F, Yassien MR, de Bruin C, Wijaya A, Firmansyah A, Wit JM
J Pediatr Endocrinol Metab, 34(5):547-557, 13 Apr 2021
Cited by: 0 articles | PMID: 33851527
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No association between glucocorticoid receptor polymorphisms and long-term respiratory outcome after very preterm birth.
Baas EM, Romijn M, van der Pal SM, Vrijlandt EJLE, Rotteveel J, Finken MJJ, Dutch POPS-19 Collaborative Study Group
Endocrine, 73(1):226-229, 20 Mar 2021
Cited by: 0 articles | PMID: 33745122
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IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins.
Brûlé E, Heinen CA, Smith CL, Schang G, Li Y, Zhou X, Wang Y, Joustra SD, Wit JM, Fliers E, Repping S, van Trotsenburg ASP, Bernard DJ
J Endocr Soc, 5(4):bvab023, 20 Feb 2021
Cited by: 4 articles | PMID: 33796801 | PMCID: PMC7986638
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Growth failure: 'idiopathic' only after a detailed diagnostic evaluation.
Rapaport R, Wit JM, Savage MO
Endocr Connect, 10(3):R125-R138, 01 Mar 2021
Cited by: 15 articles | PMID: 33543731 | PMCID: PMC8052574
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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, [...] Tartaglia M
Am J Hum Genet, 108(1):115-133, 11 Dec 2020
Cited by: 31 articles | PMID: 33308444 | PMCID: PMC7820739
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Physiology of GH action and associated human disorders.
Domené HM, Wit JM, Frank SJ
Mol Cell Endocrinol, 520:111078, 07 Nov 2020
Cited by: 1 article | PMID: 33171208
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Guideline for referring short or tall children in preventive child health care.
van Dommelen P, van Zoonen R, Vlasblom E, Wit JM, Beltman M, Expert Committee
Acta Paediatr, 110(4):1231-1238, 29 Oct 2020
Cited by: 9 articles | PMID: 33118654
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The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
Ghanny S, Zidell A, Pedro H, Joustra SD, Losekoot M, Wit JM, Aisenberg J
J Clin Res Pediatr Endocrinol, 13(4):461-467, 13 Oct 2020
Cited by: 1 article | PMID: 33045800 | PMCID: PMC8638627
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Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature
Labarta JI, Ranke MB, Maghnie M, Martin D, Guazzarotti L, Pfäffle R, Koledova E, Wit JM
J Clin Res Pediatr Endocrinol, 13(2):124-135, 02 Oct 2020
Cited by: 4 articles | PMID: 33006554 | PMCID: PMC8186334
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Disorders of IGFs and IGF-1R signaling pathways.
Forbes BE, Blyth AJ, Wit JM
Mol Cell Endocrinol, 518:111035, 15 Sep 2020
Cited by: 47 articles | PMID: 32941924
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1-25 of 498 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Wit JM" with an ORCID

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

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Identification of novel genes including NAV2 associated with isolated tall stature.

Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure.

Long-acting PEGylated growth hormone in children with idiopathic short stature: time to reconsider our diagnostic and treatment policy?

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

A Novel Method for Adult Height Prediction in Children With Idiopathic Short Stature Derived From a German-Dutch Cohort.

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Ways to Improve the Diagnosis of Growth Hormone Deficiency.

Should Skeletal Maturation Be Manipulated for Extra Height Gain?

Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.

Anthropometric, biochemical and hormonal profiles of the partially admixed pygmoid group in Rampasasa (Flores, Indonesia).

No association between glucocorticoid receptor polymorphisms and long-term respiratory outcome after very preterm birth.

IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins.

Growth failure: 'idiopathic' only after a detailed diagnostic evaluation.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

Physiology of GH action and associated human disorders.

Guideline for referring short or tall children in preventive child health care.

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature

Disorders of IGFs and IGF-1R signaling pathways.

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