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

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, [...] Maroofian R
Genet Med, 101251, 10 Sep 2024
Cited by: 0 articles | PMID: 39275948
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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, [...] Wagner M
Nat Genet, 56(8):1644-1653, 22 Jul 2024
Cited by: 2 articles | PMID: 39039281 | PMCID: PMC11319204
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
Hsieh T, Lesmann H, Hustinx A, Moosa S, Marchi E, Martin MdPC, Abdelrazek I, Pantel JT, Klinkhammer H, Hagen Mt, Thong M, Mazlan RAB, Tae SK, Kamphans T, Meiswinkel W, Li J, Javanmardi B, Knaus A, Uwineza A, [...] Olinger E
Research Square, 10 Jun 2024
Cited by: 0 articles | PPR: PPR865209
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Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, [...] O'Donnell-Luria A
N Engl J Med, 390(21):1985-1997, 01 Jun 2024
Cited by: 7 articles | PMID: 38838312
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Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
Ahting S, Popp D, Oppermann H, Strehlow V, Fasshauer M, Popp B, Karnstedt M, Schumann I
medRxiv, 26 Sep 2023
Cited by: 0 articles | PPR: PPR731816
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Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome.
Stiller S, Drukewitz S, Lehmann K, Hentschel J, Strehlow V
Cancers (Basel), 15(15):3938, 02 Aug 2023
Cited by: 3 articles | PMID: 37568754 | PMCID: PMC10417109
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
Lesmann H, Hustinx A, Moosa S, Klinkhammer H, Marchi E, Caro P, Abdelrazek IM, Pantel JT, ten Hagen M, Thong M, Binti Mazlan RA, Tae SK, Kamphans T, Meiswinkel W, Li J, Javanmardi B, Knaus A, Uwineza A, Knopp C, [...] Hsieh T
medRxiv, 10 Jun 2023
Cited by: 0 articles | PPR: PPR673953
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KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Cioclu MC, Mosca I, Ambrosino P, Puzo D, Bayat A, Wortmann SB, Koch J, Strehlow V, Shirai K, Matsumoto N, Sanders SJ, Michaud V, Legendre M, Riva A, Striano P, Muhle H, Pendziwiat M, Lesca G, Mangano GD, [...] Taglialatela M
Ann Neurol, 94(2):332-349, 22 May 2023
Cited by: 6 articles | PMID: 37062836
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, [...] Gennarino VA
J Clin Invest, 133(10):e165019, 15 May 2023
Cited by: 6 articles | PMID: 36976648 | PMCID: PMC10178846
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Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel H, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, [...] Wagner M
medRxiv, 25 Apr 2023
Cited by: 0 articles | PPR: PPR650147
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Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F, Beck AE, Susie B, Tobias B, Begtrup A, Biskup S, Caluseriu O, Delanty N, Fröhlich C, Greally MT, Karnstedt M, Klöckner C, Kurtzberg J, Schubert S, Schulze M, Weidenbach M, Westphal DS, White M, Wolf CM, [...] Strehlow V
Am J Med Genet A, 191(2):469-478, 25 Nov 2022
Cited by: 3 articles | PMID: 36426740
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The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel J, Di Donato N, Rump A, Gburek-Augustat J, Graf E, Wagner M, Sorge I, Lemke JR, Meitinger T, Abou Jamra R, Strehlow V, Brunet T
Clin Genet, 103(2):226-230, 20 Oct 2022
Cited by: 1 article | PMID: 36189577
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Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.
Strehlow V, Rieubland C, Gallati S, Kim S, Myers SJ, Peterson V, Ramsey AJ, Teuscher DD, Traynelis SF, Lemke JR
Epilepsia, 63(10):e132-e137, 30 Aug 2022
Cited by: 6 articles | PMID: 35983985 | PMCID: PMC10681797
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A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2
Popp B, Brugger M, Poschmann S, Bartolomaeus T, Radtke M, Hentschel J, Di Donato N, Rump A, Gburek-Augustat J, Graf E, Wagner M, Lemke J, Meitinger T, Jamra RA, Strehlow V, Brunet T
medRxiv, 25 Feb 2022
Cited by: 0 articles | PPR: PPR461436
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, Huang MC, Longley CM, Chao HT, Chung HL, [...] Yamamoto S
Cell Rep, 38(11):110517, 01 Mar 2022
Cited by: 18 articles | PMID: 35294868 | PMCID: PMC8983390
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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Undiagnosed Diseases Network, Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, [...] Bellen HJ
Genet Med, 23(10):1889-1900, 10 Jun 2021
Cited by: 11 articles | PMID: 34113007 | PMCID: PMC8487929
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GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, [...] GRIN2A study group
Brain, 142(1):80-92, 01 Jan 2019
Cited by: 94 articles | PMID: 30544257 | PMCID: PMC6308310
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Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.
Seitz AT, Sterz H, Strehlow V, Nagel S, Dumann K, Grunewald S, Simon JC, Kunz M
Lasers Surg Med, 51(4):321-324, 03 Oct 2018
Cited by: 1 article | PMID: 30281812
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Drug-Induced Loss of Preexcitation in Pediatric Patients with WPW Pattern During Electrophysiologic Study.
Paech C, Wagner F, Strehlow V, Gebauer RA
Pediatr Cardiol, 40(1):194-197, 10 Sep 2018
Cited by: 1 article | PMID: 30203293
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Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.
Strehlow V, Swinkels ME, Thomas RH, Rapps N, Syrbe S, Dorn T, Lemke JR
Mol Syndromol, 7(4):239-246, 24 Aug 2016
Cited by: 10 articles | PMID: 27781034 | PMCID: PMC5073659
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Development of LbL biopolymer capsules as a delivery system for the multilayer-assembled anti-inflammatory substance α1-antitrypsin.
Strehlow V, Lessig J, Göse M, Reibetanz U
J Mater Chem B, 1(30):3633-3643, 18 Jun 2013
Cited by: 3 articles | PMID: 32261260
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Inhibition of human neutrophil elastase by α1-antitrypsin functionalized colloidal microcarriers.
Reibetanz U, Schönberg M, Rathmann S, Strehlow V, Göse M, Leßig J
ACS Nano, 6(7):6325-6336, 25 Jun 2012
Cited by: 11 articles | PMID: 22703528
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1-22 of 22 results

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

Search results

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Genome Sequencing for Diagnosing Rare Diseases.

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

Clinical Impact of Polygenic Risk Score for Breast Cancer Risk Prediction in 382 Individuals with Hereditary Breast and Ovarian Cancer Syndrome.

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.

Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Full ablative versus fractional ablative laser therapy for Dowling-Degos disease.

Drug-Induced Loss of Preexcitation in Pediatric Patients with WPW Pattern During Electrophysiologic Study.

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Development of LbL biopolymer capsules as a delivery system for the multilayer-assembled anti-inflammatory substance α1-antitrypsin.

Inhibition of human neutrophil elastase by α1-antitrypsin functionalized colloidal microcarriers.

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