Phillip F. Chance

Overview

Best Publications

• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

  Craig L. Bennett;Jacinda Christie;Fred Ramsdell;Mary E. Brunkow

  4202
  Citations

• Connexin mutations in X-linked Charcot-Marie-Tooth disease.

  J Bergoffen;SS Scherer;S Wang;MO Scott

  1368
  Citations

• DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

  Ying Zhang Chen;Craig L. Bennett;Huy M. Huynh;Ian P. Blair

  978
  Citations

• DNA deletion associated with hereditary neuropathy with liability to pressure palsies

  Phillip F. Chance;Phillip F. Chance;Mary Kathryn Alderson;Mary Kathryn Alderson;Mary Kathryn Alderson;Kathleen A. Leppig;M.William Lensch

  963
  Citations

• Peripheral myelin protein–22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot–Marie–Tooth 1A

  Norisada Matsunami;Norisada Matsunami;Brooke Smith;Linda Ballard;M. William Lensch

  380
  Citations

• Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

  Phillip F. Chance;Nacer Abbas;M.William Lensch;Liu Pentao

  374
  Citations

• Dejerine−Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

  Benjamin B. Roa;Peter J. Dyck;Harold G. Marks;Phillip F. Chance;Phillip F. Chance

  339
  Citations

• Molar Tooth Sign of the Midbrain-Hindbrain Junction: Occurrence in Multiple Distinct Syndromes

  Joseph G. Gleeson;Lesley C. Keeler;Melissa A. Parisi;Sarah E. Marsh

  315
  Citations

• A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.

  Craig L. Bennett;Mary E. Brunkow;Fred Ramsdell;Kathy C. O'Briant

  303
  Citations

• Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

  Gregor Kuhlenbäumer;Gregor Kuhlenbäumer;Mark C Hannibal;Eva Nelis;Anja Schirmacher

  292
  Citations

• The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

  Melissa A. Parisi;Craig L. Bennett;Melissa L. Eckert;William B. Dobyns

  290
  Citations

• Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

  R Bachmann-Gagescu;J C Dempsey;I G Phelps;B J O'Roak

  273
  Citations

• CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

  Nicholas T. Gorden;Heleen H. Arts;Melissa A. Parisi;Karlien L.M. Coene

  268
  Citations

• Joubert syndrome (and related disorders) (OMIM 213300).

  Melissa A Parisi;Dan Doherty;Phillip F Chance;Ian A Glass

  265
  Citations

• Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

  Phillip F. Chance;Bruce A. Rabin;Stephen G. Ryan;Yuan Ding

  255
  Citations

• Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

  V. A. Street;C. L. Bennett;J. D. Goldy;A. J. Shirk

  251
  Citations

• Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

  Peter James Dyck;Peter James Dyck;William J. Litchy;Sharon Minnerath;Thomas D. Bird

  203
  Citations

• Epilepsy and mental retardation limited to females : an x-linked dominant disorder with male sparing

  Stephen G. Ryan;Phillip F. Chance;Chang-Hua Zou;Nancy B. Spinner

  174
  Citations

• Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

  D. Doherty;M. A. Parisi;L. S. Finn;M. Gunay-Aygun

  164
  Citations

• Molar Tooth Sign of the Midbrain-Hindbrain Junction

  Joseph G. Gleeson;Lesley C. Keeler;Melissa A. Parisi;Sarah E. Marsh

  0
  Citations