Genetic Mutations and Related Syndromes

This cluster investigates genetic mutations and their roles in various syndromes. It aims to understand the connections between specific genetic changes and clinical presentations.

genetic mutations
syndromes
clinical genetics
mutation analysis
disease connections

5,135 papers

Parent topic: Genomic and Proteomic Research

AI-assisted content · The overview, paper groupings, and influence analysis on this page are AI-generated. They are intended as a starting point for exploring the field and may contain inaccuracies. Report an error

Papers Over Time

191019201930194019501960197019801990200020102020

Top Papers

Mutations Of The Human Homolog Of Drosophila Patched In The Nevoid Basal Cell Carcinoma Syndrome.

1996 · 1,708 citations

Methylation Of A CTCF-dependent Boundary Controls Imprinted Expression Of The Igf2 Gene

2000 · 1,541 citations

Twenty-five Years Of The Nucleosome, Fundamental Particle Of The Eukaryote Chromosome.

1999 · 1,402 citations

Germ-Line Mutations In Nonsyndromic Pheochromocytoma

2002 · 1,276 citations

A Syndrome Of Multiorgan Hyperplasia With Features Of Gigantism, Tumorigenesis, And Female Sterility In P27 -Deficient Mice

1996 · 1,163 citations

Mutations Of The Human Homolog Of Drosophila Patched In The Nevoid Basal Cell Carcinoma Syndrome

1996 · 1,031 citations

Gene Mutations In The Succinate Dehydrogenase Subunit SDHB Cause Susceptibility To Familial Pheochromocytoma And To Familial Paraganglioma

2001 · 1,012 citations

Nibrin, A Novel DNA Double-Strand Break Repair Protein, Is Mutated In Nijmegen Breakage Syndrome.

1998 · 873 citations

Mutations In The Chloride Channel Gene, CLCNKB, Cause Bartter's Syndrome Type III

1997 · 848 citations

The Cryb Mutation Identifies Cryptochrome As A Circadian Photoreceptor In Drosophila.

1998 · 765 citations

H3.3/H2A.Z Double Variant–Containing Nucleosomes Mark 'Nucleosome-Free Regions' Of Active Promoters And Other Regulatory Regions

2009 · 681 citations

Genes Regulating HLA Class I Antigen Expression In T-B Lymphoblast Hybrids

1985 · 625 citations

Identification Of The DNA Binding Site For NGFI-B By Genetic Selection In Yeast

1991 · 575 citations

HuD, A Paraneoplastic Encephalomyelitis Antigen, Contains RNA-binding Domains And Is Homologous To Elav And Sex-lethal.

1991 · 551 citations

Core Histone Hyperacetylation Co-Maps With Generalized DNase I Sensitivity In The Chicken Beta-Globin Chromosomal Domain.

1994 · 539 citations

Testing Gene Function Early In The B Cell Lineage In Mb1-Cre Mice

2006 · 525 citations

Gardner Syndrome In A Man With An Interstitial Deletion Of 5Q

1986 · 522 citations

Loss Of Imprinting Of IGF2 Is Linked To Reduced Expression And Abnormal Methylation Of H19 In Wilms' Tumour

1994 · 500 citations

Syndrome Of The Black Swan

1987 · 497 citations

Nibrin, A Novel DNA Double-Strand Break Repair Protein, Is Mutated In Nijmegen Breakage Syndrome

1998 · 493 citations