Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication

Autor: Cacha M.P.C.D. Peeters-Scholte, Sylke J. Steggerda, Saskia Koene, Marije Meuwissen, Phebe N. Adama van Scheltema, Gijs W. E. Santen, Linda S. de Vries, Jeroen Knijnenburg

Publikováno v: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 185(2), 571-574. WILEY
American journal of medical genetics : part A

Intracerebral hemorrhage is rare in term born neonates. Besides several non-genetic risk factors, pathogenic variants in COL4A1 and COL4A2 have been described to play a role in the pathophysiology of neonatal intracerebral hemorrhage. To the best of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6523aefc79dd04ce04d70cff8942689
https://doi.org/10.1002/ajmg.a.61988

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy

Autor: Christine Willekes, Catia M. Bilardo, Dick Oepkes, Mireille N. Bekker, L. K. Duin, Phebe N. Adama van Scheltema, Eva Pajkrt, Caroline J. Bax, Titia E. Cohen-Overbeek, F. Fontanella

Publikováno v: Fetal Diagnosis and Therapy, 45(3), 155-161. S. Karger AG
Fetal Diagnosis and Therapy, 45(3), 155-161. Karger
Fetal Diagnosis and Therapy, 45(3), 155-161. KARGER
Fetal Diagnosis & Therapy, 45(3), 155-161. Karger
Fetal diagnosis and therapy, 45(3), 155-161. S. Karger AG
Fetal Diagnosis and Therapy, 45(3), 155. S. Karger AG
Fontanella, F, Duin, L, Adama van Scheltema, P N, Cohen-Overbeek, T E, Pajkrt, E, Bekker, M, Willekes, C, Bax, C J, Oepkes, D & Bilardo, C M 2019, ' Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy ', Fetal Diagnosis and Therapy, vol. 45, no. 3, pp. 155-161 . https://doi.org/10.1159/000488282

Objective: To investigate the best criteria for discriminating fetuses with isolated posterior urethral valves from those theoretically not eligible for fetal treatment because of complex megacystis, high chance of spontaneous resolution, and urethra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a2a243816c2eef3c6f33a44efda53f
https://europepmc.org/articles/PMC6482981/

Outcome of isolated gastroschisis; an international study, systematic review and meta-analysis

Autor: Mirjam M. van Weissenbruch, Maria de Lourdes Brizot, Chiara C. M. M. Lap, Alex J. Eggink, Christine Willekes, Monique C. Haak, Marinus J.C. Eijkemans, Ana Cristina Aoun Tannuri, Rossana Pulcineli Vieira Francisco, Anton H. van Kaam, Eva Pajkrt, Lourens R. Pistorius, Gwendolyn T. R. Manten, Ivo B. Teeuwen, Christien Sleeboom, Ernst L. van Heurn, William L. M. Kramer, Arno van Heijst, Hens A. A. Brouwers, Phebe N. Adama van Scheltema, Gerard H. A. Visser, Peter H. Dijk, Robertine van Baren, Mark A. H. B. M. van der Hoeven, Catherina M. Bilardo

Publikováno v: Early Human Development, 103, 209-218. Elsevier Ireland Ltd
Lap, C C M M, Brizot, M L, Pistorius, L R, Kramer, W L M, Teeuwen, I B, Eijkemans, M J, Brouwers, H A A, Pajkrt, E, van Kaam, A H, van Scheltema, P N A, Eggink, A J, van Heijst, A F, Haak, M C, van Weissenbruch, M M, Sleeboom, C, Willekes, C, van der Hoeven, M A, van Heurn, E L, Bilardo, C M, Dijk, P H, van Baren, R, Francisco, R P V, Tannuri, A C A, Visser, G H A & Manten, G T R 2016, ' Outcome of isolated gastroschisis; an international study, systematic review and meta-analysis ', Early Human Development, vol. 103, pp. 209-218 . https://doi.org/10.1016/j.earlhumdev.2016.10.002
Early Human Development, 103, 209-218
Early Human Development, 103, 209. Elsevier Ireland Ltd
Early Human Development, 103, pp. 209-218

Contains fulltext : 168757.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To determine outcome of children born with isolated gastroschisis (no extra-gastrointestinal congenital abnormalities). STUDY DESIGN: International cohort study and me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdb421ff1fd2d5196dd39b87b87e63a6
https://doi.org/10.1016/j.earlhumdev.2016.10.002

FETAL PAIN

Autor: PHEBE N ADAMA VAN SCHELTEMA, SEM BAKKER, FPHA VANDENBUSSCHE, D OEPKES

Publikováno v: Fetal and Maternal Medicine Review. 19:311-324

The concept of fetal pain is becoming more and more relevant since the possibilities for invasive intrauterine treatment are increasing. However, there is much debate as to whether the fetus is mature enough to be able to perceive pain. But what is �

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77898c798e26529d5a2f0b0f5bbc767f
https://doi.org/10.1017/s0965539508002271

Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance

Autor: Frans J.C.M. Klumper, Mariëtte J.V. Hoffer, Phebe N. Adama van Scheltema, Claudia A. L. Ruivenkamp, Gijs W. E. Santen, Tamara T. Koopmann, Marije Koopmans, Marjo S. van der Knaap, Cacha M.P.C.D. Peeters-Scholte, Sylke J. Steggerda, Sheila M P Everwijn

Publikováno v: Brain, 140(11)
Brain, 140
Peeters-Scholte, C M P C D, Adama Van Scheltema, P N, Klumper, F J C M, Everwijn, S M P, Koopmans, M, Hoffer, M J V, Koopmann, T T, Ruivenkamp, C A L, Steggerda, S J, Van Der Knaap, M S & Santen, G W E 2017, ' Genotype-phenotype correlation in ATAD3A deletions : Not just of scientific relevance ', Brain, vol. 140, no. 11, pp. e66 . https://doi.org/10.1093/brain/awx239

Recently, Desai et al. described six subjects with deletions in the ATAD3 gene cluster ( Desai et al. 2017 ). Most of these patients died within their first week of life and one died after 7 months, but one was still alive at 30 years of age. Harel e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f53f1db1368bbcdebbdc1642817d38
https://doi.org/10.1093/brain/awx239