ライフサイエンスコーパス: macrocephaly

1 log induced an increase of proliferation and macrocephaly.

2 -mTOR pathway, are a risk factor for ASD and macrocephaly.

3 ve been reported in individuals with ASD and macrocephaly.

4 ubset of autism spectrum disorder (ASD) with macrocephaly.

5 ism spectrum disorder (ASD) and accompanying macrocephaly.

6 = 42) with 1q21-associated microcephaly and macrocephaly.

7 ait macules (CALMs), axillary freckling, and macrocephaly.

8 uced a potential animal model of autism with macrocephaly.

9 nest indication and scanned body region were macrocephaly (18.8%) and the brain (76.8%), respectively

10 papilloedema (13%) for intracranial tumours; macrocephaly (41%), nausea and vomiting (30%), irritabil

11 from ASXL1- and ASXL3-related disorders are macrocephaly, absence of growth retardation, and more va

12 by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.

13 The mutant mice exhibited macrocephaly and behavioral abnormalities reminiscent of

14 n specific neuronal populations can underlie macrocephaly and behavioral abnormalities reminiscent of

15 fic genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the

16 Additionally, Pten mutant mice have macrocephaly and exhibit impairment in social interactio

17 ses presented with large ventricles, causing macrocephaly and hydrocephalus suspicion, and all cases

18 mber, thus providing compelling etiology for macrocephaly and Lhermitte-Duclos disease.

19 n neurogenesis that may explain PTEN-related macrocephaly and Miller-Dieker lissencephaly.

20 exemplified by the hallmark features of BRR: macrocephaly and multiple lipomas, the latter of which o

21 dentified kaptin alterations responsible for macrocephaly and neurodevelopmental delay and define kap

22 We observed macrocephaly and neuronal hypertrophy, including hypertr

23 Loss of Pten resulted in progressive macrocephaly and seizures.

24 The resulting mutant mice exhibited macrocephaly and shortened limbs due to retarded endocho

25 ts are predisposed to learning disabilities, macrocephaly, and brain tumors as well as abnormalities

26 a well-established risk factor for ASD with macrocephaly, and conditional Pten mouse models have imp

27 cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes.

28 unrelated probands with developmental delay, macrocephaly, and dysmorphic features.

29 sphatase, have been associated with gliomas, macrocephaly, and mental deficiencies.

30 ated with intellectual disability, seizures, macrocephaly, and obesity.

31 and body, including seizures, hyperactivity, macrocephaly, and obesity.

32 rome, which is characterized by lipomatosis, macrocephaly, and speckled penis, the PTEN hamartoma tum

33 ssively coarsening facial features, relative macrocephaly, and the absence of seizures.

34 n apoptosis in the developing brain, whereas macrocephaly arises by increased proliferation and no ch

35 subset of CD families and is associated with macrocephaly, ataxia and dysplastic cerebellar gangliocy

36 otential relevance to the pathophysiology of macrocephaly/autism syndrome and autism spectrum disorde

37 us Pten mutant mice (Pten(+/-)), which model macrocephaly/autism syndrome.

38 neuronal knock-out of Pten in mice can cause macrocephaly, behavioral changes similar to ASD, and sei

39 They had similar clinical (macrocephaly, broad faces, skin tags, motor dyspraxia, s

40 available for clinical assessment, including macrocephaly, characteristic facial features, renal anom

41 tal syndrome with characteristic features of macrocephaly, cognitive and motor dysfunction, subcutane

42 vo suppression of chd8 in zebrafish produced macrocephaly comparable to that of humans with inactivat

43 racteristics enriched in this group included macrocephaly, distinct faces, and gastrointestinal compl

44 elay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abno

45 Accelerated head and brain growth (macrocephaly) during development is a replicated biologi

46 nd visual system abnormalities, weight loss, macrocephaly, growth failure, and precocious puberty als

47 mutated in a subset of autism patients with macrocephaly; however, the link between the role of PTEN

48 haracterized by mental retardation, relative macrocephaly, hypotonia and constipation.

49 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures.

50 ted disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavio

51 omatous polyposis condition with features of macrocephaly, intestinal juvenile polyposis, development

52 tion of PTEN are highly variable and include macrocephaly, Lhermitte-Duclos disease (LDD) caused by a

53 Macrocephaly, macroglossia and umbilical hernia were als

54 We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible AS

55 mirror phenotypes of obesity/underweight and macrocephaly/microcephaly.

56 ure and craniofacial malformations including macrocephaly, midface hypoplasia, micrognathia, frontal

57 with delayed puberty, hypogonadism, relative macrocephaly, moderate short stature, central obesity, u

58 ncoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures.

59 patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=1

60 Clinically, GA-I is characterized by macrocephaly, progressive dystonia and dyskinesia.

61 nition of a specific phenotype consisting of macrocephaly, prominent eyes, arched eyebrows, hypertelo

62 s have been associated with microcephaly and macrocephaly, respectively.

63 r disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, lead

64 re complex phenotypes, including progressive macrocephaly, seizures, and premature death.

65 nce, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos dise

66 s well as various brain disorders, including macrocephaly, seizures, Lhermitte-Duclos disease, and au

67 al neurons in the mouse results in seizures, macrocephaly, social interaction deficits and anxiety, r

68 associated with mental retardation, relative macrocephaly, tremor and a peripheral neuropathy.

69 les of contradicting clinical features (e.g. macrocephaly versus microcephaly and upslanting versus d

70 ditionally, neuronal hypertrophy, as well as macrocephaly was observed.

71 lly significant features of microcephaly and macrocephaly were found in individuals with microdeletio

72 Infants commonly present with progressive macrocephaly whereas children older than 2 years general

73 otypes characterized by chondrodysplasia and macrocephaly, which affect endochondral and intramembran