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122 results for severe+psychomotor+retardation

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ArticlesPeer ReviewedFull Text
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate
Author / Creator:Lindgren, Amelia M. ; Hoyos, Tatiana ; Talkowski, Michael E. ; Hanscom, Carrie ; Blumenthal, Ian ; Chiang, Colby ; Ernst, Carl ; Pereira, Shahrin ; Ordulu, Zehra ; Clericuzio, Carol ; Drautz, Joanne M. ; Rosenfeld, Jill A. ; Shaffer, Lisa G. ; Velsher, Lea ; Pynn, Tania ; Vermeesch, Joris ; Harris, David J. ; Gusella, James F. ; Liao, Eric C. ; Morton, Cynthia C.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Human genetics, 2013-05, Vol.132 (5), p.537-552
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Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
Author / Creator:Kettwig, Matthias ; Elpeleg, Orly ; Wegener, Eike ; Dreha-Kulaczewski, Steffi ; Henneke, Marco ; Gärtner, Jutta ; Huppke, Peter
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2016-05, Vol.16 (1), p.74-74, Article 74
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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease
Author / Creator:Armanet, Narjes ; Metay, Corinne ; Brisset, Sophie ; Deschenes, Georges ; Pineau, Dominique ; Petit, François M ; Di Rocco, Federico ; Goossens, Michel ; Tachdjian, Gérard ; Labrune, Philippe ; Tosca, Lucie
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2015-02, Vol.8 (1), p.8-8
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Urgent release of severe psychomotor retardation with intramuscular lorazepam: a case report
Author / Creator:Kanzawa, Mark ; Premkumar, Beena
Publisher:London, England: SAGE Publications
Journal title:Therapeutic advances in psychopharmacology, 2017-10, Vol.7 (10), p.227-229
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Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p
Author / Creator:Vranekovic, J ; Brajenovic-milic, B ; Modrusan-mozetic, Z ; Babic, I ; Kapovic, M
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2008-08, Vol.121 (3-4), p.298-301
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Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syn...
Author / Creator:Mégarbané, A ; Choueiri, R ; Bleik, J ; Mezzina, M ; Caillaud, C
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1999-08, Vol.36 (8), p.637-640
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
Author / Creator:Bartnik, Magdalena ; Derwińska, Katarzyna ; Gos, Monika ; Obersztyn, Ewa ; Kołodziejska, Katarzyna E. ; Erez, Ayelet ; Szpecht-Potocka, Agnieszka ; Fang, Ping ; Terczyńska, Iwona ; Mierzewska, Hanna ; Lohr, Naomi J. ; Bellus, Gary A. ; Reimschisel, Tyler ; Bocian, Ewa ; Mazurczak, Tadeusz ; Cheung, Sau Wai ; Stankiewicz, Paweł
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2011-05, Vol.13 (5), p.447-452
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Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation
Author / Creator:Felbor, U. ; Knötgen, N. ; Schams, G. ; Buwe, A. ; Steinlein, C. ; Schmid, M.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cytogenetic and genome research, 2004-01, Vol.106 (1), p.55-60
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Study Findings from I.H. Pacheva et al Broaden Understanding of Cerebral Palsy (TSEN54 Gene-Related pontocerebellar Hypoplasia type 2 Could Mimic Dyskinetic Cerebral palsy with severe psychomotor Reta...
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2018-02, p.6796
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Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?
Author / Creator:Wolff, G ; Zimmermann, E ; Zimmerhackl, B ; Harnasch, C ; Jung, C ; Back, E
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 1994-01, Vol.31 (1), p.65-67
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Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms : a new recessibe syndrome ?
Author / Creator:WOLFF, G ; ZIMMERMANN, E ; ZIMMERHACKI, B ; HARNASCH, C ; JUNG, C ; BACK, E
Publisher:London: BMJ
Journal title:Journal of medical genetics, 1994, Vol.31 (1), p.65-67
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Aciduria D-glicérica. A propósito de un caso y revisión de la bibliografía/D-glyceric acidemia: case report and literature review
Author / Creator:Insuga, V M Soto ; Requena, P Tirado ; Bermejo, A Martínez ; Merino, M ; Arcas, J ; de la Puente, A ; Viana, H ; Murias, S ; García, M J
Publisher:Madrid: Ediciones Mayo
Journal title:Acta pediátrica española, 2010-02, Vol.68 (2), p.79
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A case of Fukuyama-type congenital muscular dystrophy with acute carnitine deficiency triggered by fever, vomiting, and gastrointestinal bleeding
Author / Creator:Uchiyama, Shin-ichi ; Korematsu, Seigo ; Wasada, Rieko ; Imai, Kazuhide ; Uemura, Atsumi ; Hiramatsu, Misako ; Goto, Kazuya
Publisher:United States: Elsevier Inc
Journal title:Nutrition (Burbank, Los Angeles County, Calif.), 2023-06, Vol.110, p.112011, Article 112011
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The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program
Author / Creator:Rohde, Carmen ; Thiele, Alena Gerlinde ; Tomm, Anne ; Lier, Dinah ; Eschrich, Kathrin ; Baerwald, Christoph ; Beblo, Skadi
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2024-12, Vol.16 (23), p.4111
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Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations
Author / Creator:Anık, Ahmet ; Kersseboom, Simone ; Demir, Korcan ; Çatlı, Gönül ; Yiş, Uluç ; Böber, Ece ; van Mullem, Alies ; van Herebeek, Ramona E.A. ; Hız, Semra ; Abacı, Ayhan ; Visser, Theo J.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2014-01, Vol.82 (4), p.261-271
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Adenylosuccinate lyase deficiency
Author / Creator:Jurecka, Agnieszka ; Zikanova, Marie ; Kmoch, Stanislav ; Tylki-Szymańska, Anna
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.231-242
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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
Author / Creator:Friesema, Edith CH ; Grueters, Annette ; Biebermann, Heike ; Krude, Heiko ; von Moers, Arpad ; Reeser, Maarten ; Barrett, Timothy G ; Mancilla, Edna E ; Svensson, Johan ; Kester, Monique HA ; Kuiper, George GJM ; Balkassmi, Sahila ; Uitterlinden, André G ; Koehrle, Josef ; Rodien, Patrice ; Halestrap, Andrew P ; Visser, Theo J
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2004-10, Vol.364 (9443), p.1435-1437
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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Author / Creator:Huemer, Martina ; Karall, Daniela ; Schossig, Anna ; Abdenur, Jose E. ; Al Jasmi, Fatma ; Biagosch, Caroline ; Distelmaier, Felix ; Freisinger, Peter ; Graham, Brett H. ; Haack, Tobias B. ; Hauser, Natalie ; Hertecant, Jozef ; Ebrahimi-Fakhari, Darius ; Konstantopoulou, Vassiliki ; Leydiker, Karen ; Lourenco, Charles M. ; Scholl-Bürgi, Sabine ; Wilichowski, Ekkehard ; Wolf, Nicole I. ; Wortmann, Saskia B. ; Taylor, Robert W. ; Mayr, Johannes A. ; Bonnen, Penelope E. ; Sperl, Wolfgang ; Prokisch, Holger ; McFarland, Robert
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.905-914
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Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
Author / Creator:Armour, Christine M. ; Kersseboom, Simone ; Yoon, Grace ; Visser, Theo J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-10, Vol.10 (10), p.e0139343-e0139343
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Phenotyping GABA transaminase deficiency: a case description and literature review
Author / Creator:Louro, Pedro ; Ramos, Lina ; Robalo, Conceição ; Cancelinha, Cândida ; Dinis, Alexandra ; Veiga, Ricardo ; Pina, Raquel ; Rebelo, Olinda ; Pop, Ana ; Diogo, Luísa ; Salomons, Gajja S. ; Garcia, Paula
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.743-747
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Showing 1 to 20 of 122 results

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

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Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

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Urgent release of severe psychomotor retardation with intramuscular lorazepam: a case report

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Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p

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Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syn...

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

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Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation

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Study Findings from I.H. Pacheva et al Broaden Understanding of Cerebral Palsy (TSEN54 Gene-Related pontocerebellar Hypoplasia type 2 Could Mimic Dyskinetic Cerebral palsy with severe psychomotor Reta...

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Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?

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Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms : a new recessibe syndrome ?

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Aciduria D-glicérica. A propósito de un caso y revisión de la bibliografía/D-glyceric acidemia: case report and literature review

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A case of Fukuyama-type congenital muscular dystrophy with acute carnitine deficiency triggered by fever, vomiting, and gastrointestinal bleeding

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The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program

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Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations

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Adenylosuccinate lyase deficiency

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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

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Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

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Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

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Phenotyping GABA transaminase deficiency: a case description and literature review

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