Search Results - "Stouffs, K"

EP08.24: Malformations of cortical development: from prenatal diagnosis to postnatal outcome by Garofalo, G., Marangoni, M., Jansen, A., Stouffs, K., Désir, J., Cassart, M.

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Array comparative genomic hybridization in male infertility by Stouffs, K., Vandermaelen, D., Massart, A., Menten, B., Vergult, S., Tournaye, H., Lissens, W.

“…Male infertility caused by a maturation arrest of spermatogenesis is a condition with an abrupt stop in spermatogenesis, mostly at the level of primary…”
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Are AZFb deletions always incompatible with sperm production? by Stouffs, K., Vloeberghs, V., Gheldof, A., Tournaye, H., Seneca, S.

“…Summary Deletions on the long arm of the Y chromosome are a well‐known cause of male infertility and it is generally accepted that deletions involving the AZFb…”
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Expanding the clinical spectrum of biallelic ZNF335 variants by Stouffs, K., Stergachis, A.B., Vanderhasselt, T., Dica, A., Janssens, S., Vandervore, L., Gheldof, A., Bodamer, O., Keymolen, K., Seneca, S., Liebaers, I., Jayaraman, D., Hill, H.E., Partlow, J.N., Walsh, C.A., Jansen, A.C.

“…ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive…”
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A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons by Schoutteten, M K, Bravenboer, B, Seneca, S, Stouffs, K, Velkeniers, B

“…Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a…”
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Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages by Stouffs, K, Vandermaelen, D, Tournaye, H, Liebaers, I, Lissens, W

“…Abstract The primary aim of this study was to gain more insight into maturation arrest of spermatogenesis (MA) and its relationship with mutations in genes…”
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Complex phenotype associated with mutation in the TANGO2 gene by De Meirleir, L, D'Hooghe, M, De Rademaeker, M, Stouffs, K, Geldhof, A, Seneca, S

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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation by Grodecká, L., Kováčová, T., Kramárek, M., Seneca, S., Stouffs, K., De Laet, C., Majer, F., Kršjaková, T., Hujová, P., Hrnčířová, K., Souček, P., Lissens, W., Buratti, E., Freiberger, Tomas

“…Mutations affecting splicing underlie the development of many human genetic diseases, but rather rarely through mechanisms of pseudoexon activation. Here, we…”
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PP05.6 – 2896: Genotype-phenotype correlations and counseling in carriers of Filamin A gene mutations by Keymolen, K, Stouffs, K, Gheldof, A, Seneca, S, Vanderhasselt, T, Jansen, A

“…Objective Mutations in the X-linked gene Filamin A (FLNA) are known to be linked to a broad clinical phenotype ranging from otopalatodigital syndromes (OPD1,…”
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OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy by Jansen, A, Ceuterick-de Groote, C, Vanderhasselt, T, Seneca, S, Stouffs, K, De Meirleir, L

“…Objective The differential diagnosis of childhood-onset ataxia may be challenging, especially in the absence of brain MRI or lab abnormalities. We present a…”
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P137 – 2976: Two cases of Noonan syndrome: Genotype–phenotype correlation by De Rademaeker, M, Jansen, A, Gies, I, Matthijs, G, Caljon, B, Stouffs, K, Keymolen, K

“…Objective Noonan syndrome is the most common Rasopathy, characterised by typical facial dysmorphism (hypertelorism, downslanting palpebral fissures, ptosis,…”
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The role of the testis-specific gene hTAF7L in the aetiology of male infertility by Stouffs, K., Willems, A., Lissens, W., Tournaye, H., Van Steirteghem, A., Liebaers, I.

“…The X-linked TAF7L gene is homologous to the autosomal transcription factor TAF7. Together with its testis-specific expression pattern, this might point to an…”
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Expression pattern of the Y‐linked PRY gene suggests a function in apoptosis but not in spermatogenesis by Stouffs, Katrien, Lissens, Willy, Verheyen, Greta, Van Landuyt, Lisbet, Goossens, Annieta, Tournaye, Herman, Van Steirteghem, André, Liebaers, Inge

“…In this study, we aimed at analysing the expression of the PRY (PTPN‐13 like on the Y chromosome) gene, located on the Y chromosome, in order to define the…”
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PB0986 Genotype-Phenotype Correlation in Belgian Patients with Inherited Protein C Deficiency by Bouteille, S., Stouffs, K., Jochmans, K., Orlando, C.

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Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4) by Stouffs, Katrien, Lissens, Willy, Van Landuyt, Lisbet, Tournaye, Herman, Van Steirteghem, André, Liebaers, Inge

“…PRY (PTP-BL related on the Y chromosome) has been proposed as a candidate spermatogenesis gene. We report the characterization of the genomic structure, the…”
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O-184 Maternally inherited differences in mitochondrial DNA genotype between ART and spontaneously conceived individuals associate with low birthweight by Mertens, J, Belva, F, Van Montfoort, A, Zambelli, F, Seneca, S, Couvreu de Deckersberg, E, Bonduelle, M, Tournaye, H, Stouffs, K, Barbé, K, Smeets, H, Van de Velde, H, Sermon, K, Blockeel, C, Spits, C

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The role of USP9Y and DBY in infertile patients with severely impaired spermatogenesis by Van Landuyt, L., Lissens, W., Stouffs, K., Tournaye, H., Van Steirteghem, A., Liebaers, I., Blagosklonova, O., Bresson, J-L.

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Male infertility and the involvement of the X chromosome by Stouffs, Katrien, Tournaye, Herman, Liebaers, Inge, Lissens, Willy

“…BACKGROUND Male infertility is a worldwide problem, keeping many researchers puzzled. Besides environmental factors, much attention is paid to single gene…”
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OC 17.3 Prothrombotic Polymorphisms FV Leiden and Prothrombin G20210A in 699 Unrelated Patients with Congenital Antithrombin Deficiency: More than a Prognostic Value by Bravo Perez, C., Orlando, C., Gindele, R., Cifuentes, R., Stouffs, K., Ilonczai, P., de la Morena-Barrio, M., Schlammadinger, Á., Pfliegler, G., Corral, J., Jochmans, K., Bereczky, Z.

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Are AZF b deletions always incompatible with sperm production? by Stouffs, K., Vloeberghs, V., Gheldof, A., Tournaye, H., Seneca, S.

“…Deletions on the long arm of the Y chromosome are a well‐known cause of male infertility and it is generally accepted that deletions involving the AZF b region…”
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