Heterogeneity: Causes & Reasons

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Possible Causes for Heterogeneity

Russell-Silver Syndrome

It is suggested that the Russell-Silver syndrome is heterogeneous and that the criteria for its diagnosis need re-evaluation. [ncbi.nlm.nih.gov]

Clinical presentation is heterogeneous in RSS patients with 11p15 ICR1 hypomethylation. [ncbi.nlm.nih.gov]

The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype. [ncbi.nlm.nih.gov]

Common Cold

The very high heterogeneity means that the averaged estimates must be viewed with caution. [ncbi.nlm.nih.gov]

Heterogeneity was evaluated using the I 2 statistic. When substantial heterogeneity was found ( I 2 ≥ 40%), subgroup analyses were performed. [dx.doi.org]

In addition, we aimed to identify potential sources of heterogeneity in results obtained and to assess their clinical significance. [ncbi.nlm.nih.gov]

Generalized Epilepsy with Febrile Seizures Plus

These results indicate further clinical and genetic heterogeneity in GEFS(+). [ncbi.nlm.nih.gov]

Abstract Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous [ncbi.nlm.nih.gov]

Abstract Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures [ncbi.nlm.nih.gov]

Kohlschütter-Tönz Syndrome

Houlden, H ; + view all (2013) Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity. [discovery.ucl.ac.uk]

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. [pesquisa.bvsalud.org]

Brief Report Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories [doi.org]

Breast Fibroadenolipoma

The most common sonographic findings of the hamartomas were an oval shape (16/16), circumscribed margins (10/16), heterogeneous internal echogenicity (14/16), echogenic (7 [ncbi.nlm.nih.gov]

Of the 36 hamartomas, 30 (83.3%) had heterogeneous echogenicity and 28 (77.8%) displayed no changes in posterior echogenicity. [cancerjournal.net]

Sagittal dynamic contrast-enhanced MRI showed strong heterogeneous multilobular enhancing masses that resembled orange slices. [jbd.or.kr]

Pancreatoblastoma

All of the tumours had heterogeneous enhancement on CT and MR images. Pancreatoblastoma is a rare primary tumour of the pancreas. [ncbi.nlm.nih.gov]

Most had well-defined margins (nine of 10), were heterogeneous (nine of 10), and enhanced (10 of 10). [ncbi.nlm.nih.gov]

Pancreatoblastomas are malignant epithelial neoplasms of the pancreas that are heterogeneous and have variable cellular differentiation, complicating the diagnosis. [ncbi.nlm.nih.gov]

Short QT Syndrome Type 1

Because of the heterogeneous phenotype of this disease, genetic testing is fundamental to detect individuals with concealed long QT syndrome. [revespcardiol.org]

Two further gain-of-function mutations in KvLQT1 and KCNJ2 confirmed genetic heterogeneity in this syndrome. [doi.org]

Vol 20, No 5 (2013) Review articles Published online: 2013-09-24 Abstract Congenital or familial short QT syndrome is a genetically heterogeneous cardiac channelopathy without [journals.viamedica.pl]

Thyroid Lymphoma

Thyroid status is heterogeneous. Prognosis is poor despite polychemotherapy. [academic.oup.com]

And the heterogeneous enhancement pattern is also helpful for detecting necrosis areas of PTL. [ncbi.nlm.nih.gov]

All the MALT patients had diffuse heterogeneous hypoechoic parenchyma in sonography, but only one of them with diffuse large B cell lymphomas had diffuse heterogeneous hypoechoic [ncbi.nlm.nih.gov]

Benign Adult Familial Myoclonic Epilepsy

Abstract Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. [ncbi.nlm.nih.gov]

This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1 [ncbi.nlm.nih.gov]

Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome. [moh-it.pure.elsevier.com]

Distal Hereditary Motor Neuropathy Type 1

Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive [ncbi.nlm.nih.gov]

Moon and Ji-Seon Kim and Chang Seok Ki}, year={2012} } Sang-Soo Lee, So-Young Moon, +1 author Chang Seok Ki Published 2012 Distal hereditary motor neuropathy (dHMN) is a heterogeneous [semanticscholar.org]

Chapters, 17.08.2013 - 1008 Seiten The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in [books.google.de]

Retroperitoneal Neoplasm

Figure 3 En bloc resection specimen of heterogeneous tumor with attached organs. [wjso.biomedcentral.com]

Brain image : Plexiform neurofibromas (PNFs) -- Multilobulated hyperintense masses with central hypointense "dots" are typical Mature teratoma --- well-defined heterogeneous [slideshare.net]

Chronic Obstructive Pulmonary Disease

Again, results were heterogenous (I2 = 59%). [ncbi.nlm.nih.gov]

Bronchoscopic thermal vapour ablation therapy in the management of heterogeneous emphysema. [doi.org]

Again, results were heterogenous (I 2 = 59%). [doi.org]

Hibernoma

MRI revealed that the lesion was heterogeneously hyperintense on T1W (lower in intensity than subcutaneous fat) and heterogeneously hypointense on fat-saturated T2W and STIR [ncbi.nlm.nih.gov]

On ultrasound, there was an ill-defined large heterogenous mass with increased vascularity seen posterior and superior to the uterus, with poor demarcation from the uterus [ijri.org]

Hibernomas are rare heterogeneous fatty tumors arising from brown fat precursors. Intrathoracic hibernomas are extremely rare. [ncbi.nlm.nih.gov]

Astroblastoma

[…] appearance and heterogeneous enhancement of the solid component and with cystic changes HG Port et al. (2002) [ 5 ] 15; F Corpus callosum Solid and cystic mass with heterogeneous [dx.doi.org]

Cranial magnetic resonance imaging revealed a right, occipito-temporal, voluminous, well-demarcated mass, hypointense heterogenous on T1-weighted images ( a ) with a strong [ncbi.nlm.nih.gov]

This case illustrates the potential poor outcome of high-grade astroblastoma and highlights the morphologic heterogeneity of this rare neoplasm. [ncbi.nlm.nih.gov]

Plasmablastic Lymphoma

The PBL-T tumor was genetically heterogeneous, despite being histologically quite homogeneous PBL. [ncbi.nlm.nih.gov]

Laboratory studies showed abnormal liver functions, and abdominal magnetic resonance imaging (MRI) showed a 76-mm heterogeneous mass in the liver. [ncbi.nlm.nih.gov]

Because of its rarity and heterogeneous presentations, PBL could easily be overlooked clinically and pathologically in immunocompetent patients. [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 1G

BLAST Align Show all Add to basket A0A087WUK2 A0A087WUK2_HUMAN Heterogeneous nuclear ribonucleopro... [uniprot.org]

Background Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting [paperity.org]

It is a highly heterogeneous disease with 16 identified loci: six of them autosomal dominant (AD) (LGMD1) and 10 autosomal recessive (AR) (LGMD2). [doi.org]

Limb-Girdle Muscular Dystrophy Type 1H

Our findings further expand the clinical and genetic heterogeneity of LGMDs. [moh-it.pure.elsevier.com]

Limb-girdle muscular dystrophies (LGMDs) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder and pelvic [scinapse.io]

Abstract : The limb-girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders with a selective or predominant involvement of shoulder [hal.archives-ouvertes.fr]

Autosomal Recessive Deafness 42

The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. [books.google.com]

Autosomal recessive prelingual deafness is known to be genetically highly heterogeneous. [cags.org.ae]

Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of [ncbi.nlm.nih.gov]

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Abstract The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. [ncbi.nlm.nih.gov]

Abstract The limb-girdle muscular dystrophies are a clinically and genetically heterogeneous group of disorders. [ncbi.nlm.nih.gov]

Abstract Autosomal recessive limb-girdle muscular dystrophies represent a genetically heterogeneous group of diseases characterized by a progressive involvement of skeletal [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy Type 2L

[…] clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. [paperity.org]

Type 2 - autosomal recessive Autosomal recessive inheritance with heterogeneous clinical features. In severe form, onset at age 3 to 5 years (SCARMD). [dmd.nl]

AB - Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature. [jhu.pure.elsevier.com]

Limb-Girdle Muscular Dystrophy Type 2A

Abstract Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. [ncbi.nlm.nih.gov]

The autosomal recessive forms (LGMD2) constitute a genetically heterogeneous group with LGMD2A mapping to chromosome 15q15.1-q21.1. [ncbi.nlm.nih.gov]

Limb-girdle muscular dystrophy represents a clinically and genetically heterogeneous group of myopathies. [ncbi.nlm.nih.gov]

Limb-Girdle Muscular Dystrophy

The dystroglycanopathies comprise a clinically and genetically heterogeneous group of muscular dystrophies characterized by deficient glycosylation of alpha-dystroglycan. [ncbi.nlm.nih.gov]

Molecular diagnosis of monogenic diseases with high genetic heterogeneity is usually challenging. [ncbi.nlm.nih.gov]

Limb-girdle muscular dystrophies (LGMD) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle [ncbi.nlm.nih.gov]

Benign Ovarian Neoplasm

T2 signal, and heterogeneous enhancement (Table 2). [ajronline.org]

After paramagnetic contrast administration it has only mild, diffuse and slight heterogeneous enhancement (less than myometrium) (Figs. 2e-f). [eurorad.org]

T2 signal (p = 0.001), and heterogeneous enhancement (p = 0.005). [ncbi.nlm.nih.gov]

Muscular Dystrophy-Dystroglycanopathy Type C14

Type 2 - autosomal recessive Autosomal recessive inheritance with heterogeneous clinical features. In severe form, onset at age 3 to 5 years (SCARMD). [dmd.nl]

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. [icd10data.com]

: «Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37». Hum. Mol. Genet., 1996, 5, 7 : 1043-1046. [jmunozy.org]

Limb-Girdle Muscular Dystrophy Type 1E

Limb-girdle muscular dystrophies (LGMD) are heterogeneous disorders with autosomal inheritance. [ncbi.nlm.nih.gov]

Type 2 - autosomal recessive Autosomal recessive inheritance with heterogeneous clinical features. In severe form, onset at age 3 to 5 years (SCARMD). [dmd.nl]

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. [icd10data.com]

@article{Cattaneo2007HeterogeneousMM, title={Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis}, author={Francesca Cattaneo and Sara Molatore [semanticscholar.org]

Abstract Purpose: Familial adenomatous polyposis is a phenotypically heterogeneous disease predisposing to colorectal cancer. [nature.com]

It is known to be a heterogeneous disease with varied responses to “one-size-fits-all” treatments. [books.google.com]

Muscular Dystrophy-Dystroglycanopathy Type C3

Type 2 - autosomal recessive Autosomal recessive inheritance with heterogeneous clinical features. In severe form, onset at age 3 to 5 years (SCARMD). [dmd.nl]

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder [institut-myologie.org]

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. [icd10data.com]

Muscular Dystrophy-Dystroglycanopathy Type C5

29676-8_1057 Synonyms LGMD 2I; FKRP-pathy; Dystroglycanopathy Definition and Characteristics Limb-girdle muscular dystrophies (LGMDs) constitute a clinically and genetically heterogeneous [link.springer.com]

[…] clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance. [paperity.org]

Kallmann Syndrome

We describe herein the clinical heterogeneity in three affected brothers who carry a large deletion (exons 3-13) in KAL-1. [ncbi.nlm.nih.gov]

The two methods of induction are discussed in relation to the heterogeneity of the pituitary and ovarian function in Kallmann syndrome. [ncbi.nlm.nih.gov]

We show that this heterogeneity dictates that the treatment for induction of ovulation should be individually adjusted according to the pituitary and ovarian competence. [ncbi.nlm.nih.gov]

Infantile-Onset Ascending Hereditary Spastic Paralysis

In the six remaining families, absence of cDNA ALS2 mutations suggests either mutations in regulatory ALS2 regions or genetic heterogeneity, as already reported in JPLS. [ncbi.nlm.nih.gov]

This case adds to the allelic heterogeneity of IAHSP. [ncbi.nlm.nih.gov]