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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 1
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1981 8
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1987 12
1988 13
1989 13
1990 14
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1992 13
1993 13
1994 30
1995 31
1996 13
1997 32
1998 18
1999 21
2000 22
2001 27
2002 22
2003 20
2004 27
2005 43
2006 27
2007 33
2008 39
2009 45
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2012 50
2013 74
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1,482 results

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Quoted phrase not found in phrase index: "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"
Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
RESULTS: We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and mot …
RESULTS: We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distin …
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F. Vieri M, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282. doi: 10.1016/j.beha.2021.101282. Epub 2021 Jul 1. Best Pract Res Clin Haematol. 2021. PMID: 34404536 Review.
Particularly in adults, TBDs mostly present themselves with heterogeneous clinical features that often include bone marrow failure, hepatopathies, interstitial lung disease and other organ sites. Different degrees of severity are also observed among patients with TBDs, ran …
Particularly in adults, TBDs mostly present themselves with heterogeneous clinical features that often include bone marrow failure, hepatopa …
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez-Hernandez syndrome (GLHS) or VACTERL: vertebral anomalies (V), anal atresia (A), cardiovascular defects (C), esophageal atresia and/o …
Rhombencephalosynapsis can be isolated or can occur in association with other congenital anomalies and syndromes such as Gomez-Lopez- …
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.
Barone R, Pellico A, Pittalà A, Gasperini S. Barone R, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2. Ital J Pediatr. 2018. PMID: 30442188 Free PMC article. Review.
Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA-D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to …
Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA-D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MP …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and upli …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high foreh …
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin, inconsistent mitral valve prolapse, macroorchidism, mildly shortened stature in adulthood, and characteristic behavior that may resemble a …
A characteristic but subtle phenotype includes an elongated face and mandible, large ears, macrocephaly with bizygomatic pinching, soft skin …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...Microcephaly and immunodeficiency are common to DNA lig …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by mic …
Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC, van Eeghen AM, Zinkstok JR, van den Boogaard MJ, Boot E. Linders CC, et al. Genes (Basel). 2023 Jul 25;14(8):1514. doi: 10.3390/genes14081514. Genes (Basel). 2023. PMID: 37628566 Free PMC article. Review.
To explore how genetic variants may affect intellectual functioning and behavior, we compared intellectual and behavioral phenotypes between individuals with a 17p11.2 deletion and pathogenic RAI1 variant. ...RESULTS: We included a total of 66 individuals (n = 47, 7 …
To explore how genetic variants may affect intellectual functioning and behavior, we compared intellectual and behavioral phen …
Treatment of epileptic encephalopathies.
McTague A, Cross JH. McTague A, et al. CNS Drugs. 2013 Mar;27(3):175-84. doi: 10.1007/s40263-013-0041-6. CNS Drugs. 2013. PMID: 23397290 Review.
An understanding of the various severe epilepsy syndromes is vital to understanding the rationale for treatment. ...The role of the ketogenic diet has in recent years come to the fore of the management of these severe epilepsies and we describe successful use …
An understanding of the various severe epilepsy syndromes is vital to understanding the rationale for treatment. ...The role o …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. ...Most patients demonstrate normal intelligence, although some reports indicate delayed psychomotor and intel …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently u …
1,482 results