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

Year Number of Results
1947 1
1965 1
1968 1
1970 5
1971 1
1974 1
1975 20
1976 24
1977 15
1978 18
1979 20
1980 14
1981 29
1982 19
1983 30
1984 31
1985 42
1986 47
1987 34
1988 37
1989 57
1990 65
1991 66
1992 74
1993 93
1994 93
1995 100
1996 94
1997 129
1998 129
1999 139
2000 130
2001 157
2002 129
2003 151
2004 195
2005 212
2006 227
2007 274
2008 290
2009 299
2010 335
2011 344
2012 354
2013 421
2014 447
2015 479
2016 464
2017 495
2018 512
2019 556
2020 726
2021 745
2022 698
2023 587
2024 249

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9,588 results

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Quoted phrase not found in phrase index: "Pancytopenia-developmental delay syndrome"
Page 1
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD. Rosenfeld E, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):682-692. doi: 10.1002/ajmg.c.31737. Epub 2019 Aug 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31414570 Free PMC article. Review.
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment. ...There are at least nine known monogenic for …
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis an …
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and microcephaly, also known as AUTS2 syndrome. ...We also provide the aggregated frequency of the 3 …
Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectua …
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M. Yates TM, et al. Hum Mutat. 2020 May;41(5):1042-1050. doi: 10.1002/humu.24001. Epub 2020 Mar 5. Hum Mutat. 2020. PMID: 32097528 Free article.
Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not been fully defined. Here, we present 16 additional patients with predicted pathogenic heterozygous variants in including four individuals fr …
Only 11 affected individuals have been reported to date, and the phenotype associated with pathogenic variants in this gene have not been fu …
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F. Inuzuka LM, et al. Epileptic Disord. 2020 Jun 1;22(3):317-322. doi: 10.1684/epd.2020.1166. Epileptic Disord. 2020. PMID: 32597767
De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an intellectual deficiency/multiple malformation syndrome, and dominant deafness onychodystrophy (DDOD), a multiple malformation synd …
De novo monoallelic variants of this gene have been associated with two distinct phenotypes: Zimmermann-Laband syndrome 2 (ZLS2), an …
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. ...In …
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability …
Cerebral palsy--don't delay.
McIntyre S, Morgan C, Walker K, Novak I. McIntyre S, et al. Dev Disabil Res Rev. 2011;17(2):114-29. doi: 10.1002/ddrr.1106. Dev Disabil Res Rev. 2011. PMID: 23362031 Review.
It is important to discriminate as early as possible between: (a) mild or nonspecific motor delay, (b) developmental coordination disorder, (c) syndromes, (d) metabolic and progressive conditions, and (e) CP with its various motor types and distributions. The most p …
It is important to discriminate as early as possible between: (a) mild or nonspecific motor delay, (b) developmental coordination dis …
Dystonia-plus syndromes.
Asmus F, Gasser T. Asmus F, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. Eur J Neurol. 2010. PMID: 20590807 Review.
Dystonia-plus syndromes represent a heterogeneous group of diseases, where dystonia is accompanied by other neurological features and gene mutations can be detected frequently. ...The combination of dystonia and parkinsonism can only be rarely observed in non-degene …
Dystonia-plus syndromes represent a heterogeneous group of diseases, where dystonia is accompanied by other neurological features and …
Sotos syndrome.
Baujat G, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. Orphanet J Rare Dis. 2007. PMID: 17825104 Free PMC article. Review.
Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increase …
Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Var …
Genetics and developmental delay.
Macmillan C. Macmillan C. Semin Pediatr Neurol. 1998 Mar;5(1):39-44. doi: 10.1016/s1071-9091(98)80017-x. Semin Pediatr Neurol. 1998. PMID: 9548640 Review.
A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated hea …
A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has h …
Clinically isolated syndromes.
Miller DH, Chard DT, Ciccarelli O. Miller DH, et al. Lancet Neurol. 2012 Feb;11(2):157-69. doi: 10.1016/S1474-4422(11)70274-5. Lancet Neurol. 2012. PMID: 22265211 Review.
Clinically isolated syndrome (CIS) is a term that describes a first clinical episode with features suggestive of multiple sclerosis (MS). ...The course of MS after CIS is variable: after 15-20 years, a third of patients have a benign course with minimal or no disability an …
Clinically isolated syndrome (CIS) is a term that describes a first clinical episode with features suggestive of multiple sclerosis ( …
9,588 results