H. Hughes

发表

German syndrome in sibs.

S. Lewin, H. Hughes, 1987, American journal of medical genetics.

Child outcome following mid‐trimester amniocentesis: development, behaviour, and physical status at age 4 years

J. Zacher, J. K. Finegan, H. Hughes, 1990, British journal of obstetrics and gynaecology.

Early fetal death associated with compound heterozygosity for Noonan syndrome‐causative PTPN11 mutations

M. Patton, A. Shaw, M. Tartaglia, 2007, American journal of medical genetics. Part A.

Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?

T. Cole, M. Jeffreys, H. Hughes, 1992, Journal of medical genetics.

ASPIRATION CYTOLOGY IN BREAST CANCER ITS RELEVANCE TO DIAGNOSIS

C. Furnival, L. Blumgart, H. Hughes, 1975, The Lancet.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

N. Rahman, D. Horn, Soma Das, 2005, American journal of human genetics.

Risk of malignancy in Sotos syndrome.

S. Bertolone, T. Cole, J. Hersh, 1992, The Journal of pediatrics.

Letters to the Editor Pseudoxanthoma elasticum: evidence for the existence of a pseudogene highly homologous to the ABCC6 gene

M. Upadhyaya, H. Hughes, 2001 .

Albright's Hereditary Osteodystrophy

H. Hughes, S. Davies, 2020, Definitions.

Imprinting in Albright's hereditary osteodystrophy.

S. Davies, H. Hughes, S. Davies, 1993, Journal of medical genetics.

Cutis laxa: a feature of Costello syndrome.

S. Davies, H. Hughes, H. Hughes, 1994, Journal of medical genetics.

Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3

S. Davies, A. Meredith, S. Roberts, 1991, Journal of medical genetics.

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

J. Fryns, A. Bankier, A. Röpke, 2001, European Journal of Human Genetics.

Mutation in KCNQ1 that has both recessive and dominant characteristics

W. Reardon, I. Baró, C. Bellocq, 2002, Journal of medical genetics.

Bleeding diathesis in Noonan syndrome: a common association.

J. Opitz, J. Allanson, A. Zipursky, 1988, American journal of medical genetics.

Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?

T. Cole, H. Hughes, 1991, American journal of medical genetics.

Coarctation of the aorta in Kabuki syndrome.

S. Davies, H. Hughes, 1994, Archives of disease in childhood.

Syndrome of the month Sotos syndrome

H. Hughes, T. Cole, 2022 .

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

M. Upadhyaya, D. Ravine, T. Cole, 2001, Journal of medical genetics.

Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine.

D. Goldstein, H. Hughes, Helen E. Hughes, 1988, Journal of medical genetics.

Congenital microcephaly due to vascular disruption: in utero documentation.

H. Hughes, M. Miskin, 1986, Pediatrics.

An improved method for sequential light and scanning electron microscopy of the same cell using localising microcoverslips.

P. Toner, K. Carr, H. Hughes, 1982, Journal of clinical pathology.

Elements of morphology: Standard terminology for the ear

Gabriele Gillessen-Kaesbach, Kenneth Lyons Jones, Alasdair Hunter, 2009, American journal of medical genetics. Part A.

Twenty-four cases of the EEC syndrome: clinical presentation and management.

A. Clarke, H. Hughes, P. Buss, 1995, Journal of medical genetics.

Infant outcome following mid‐trimester amniocentesis: development and physical status at age six months

R. Weksberg, J. Finegan, H. Hughes, 1985, British journal of obstetrics and gynaecology.

Terminology in gynaecological cytopathology: report of the Working Party of The British Society for Clinical Cytology

D. Evans, C. Brown, E. Hudson, 1986, Journal of clinical pathology.

Twenty-four casesoftheEEC syndrome: clinical presentation andmanagement

A. Clarke, H. Hughes, P. Buss, 1995 .

Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs

J. Selwyn Crawford, I. Young, H. Hughes, 1982, Journal of medical genetics.

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

M. Patton, P. Syrris, V. Murday, 2000, American journal of medical genetics.

CYTOLOGICAL OBSERVATIONS, CERVICAL MUCUS "FERNING" AND HORMONE ASSAYS IN EARLY PREGNANCY.

J. Loraine, E. Bell, H. Hughes, 1964, American journal of obstetrics and gynecology.

The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

A. Fryer, P. Holt, H. Hughes, 1991, American journal of medical genetics.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

P. Holmans, M. Owen, C. Tysoe, 2002, Journal of medical genetics.

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

J. Fryns, A. Bankier, A. Röpke, 2001, European Journal of Human Genetics.

Interstitial deletion, del(4)(q33q35.1), in a mother and two children.

J. Sibert, M. Curtis, R. Smith, 1989, Journal of medical genetics.

Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.

O. Quarrell, H. Hughes, M. A. Hamill, 1988, American journal of medical genetics.

Sotos syndrome: a study of the diagnostic criteria and natural history.

T. Cole, H. Hughes, T. Cole, 1994, Journal of medical genetics.

Dystrophin analysis in the diagnosis of muscular dystrophy.

L. Nicholson, H. Hughes, A. Norman, 1989, Archives of disease in childhood.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

A CLINICAL AND LABORATORY STUDY OF TRICHOMONIASIS OF THE FEMALE GENITAL TRACT

H. Hughes, Alistair M. Gordon, G. Barr, 1966, The Journal of obstetrics and gynaecology of the British Commonwealth.

Lateral meningocele syndrome: three new patients and review of the literature.

E. Zackai, A. Duhaime, S. Zderic, 1997, American journal of medical genetics.

CYSTS OF THE VAGINAL WALL

H. Hughes, D. Evans, H. Hughes, 1961 .

Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.

K. Zerres, T. Eggermann, M. Curtis, 2004, Genetic counseling.

Anal abnormalities in childhood myotonic dystrophy--a possible source of confusion in child sexual abuse.

W. Reardon, P. Harper, S. Green, 1992, Archives of disease in childhood.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

D. Cooper, M. Krawczak, A. Clarke, 2000, Human molecular genetics.

Handbook of diagnostic cytology

H. Hughes, T. C. Dodds, H. Hughes, 1968 .

Sotos syndrome.

T. Cole, H. Hughes, 1990, Journal of medical genetics.

Morphological characteristics and distribution patterns of epithelial cells in the cytological diagnosis of gastric cancer.

J. Young, H. Hughes, D. Hole, 1982, Journal of clinical pathology.

dependent probe amplification and are readily identifiable by multiplex ligation deletions cause 5% of Sotos syndrome NSD1 Partial

Y. Gillerot, A. Irrthum, I. Temple, 2006 .

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

N. Rahman, J. Schouten, Y. Gillerot, 2005, Journal of Medical Genetics.

Partial NSD 1 deletions cause 5 % of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

J. Schouten, Y. Gillerot, A. Irrthum, 2005 .

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

N. Rahman, I. Temple, S. Hanks, 2003, American journal of human genetics.

Noonan syndrome: the changing phenotype.

Judith G. Hall, J. Opitz, J. Allanson, 1985, American journal of medical genetics.

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness.

W. Reardon, N. S. Thomas, P. Phelps, 1992, American journal of medical genetics.

A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

M. Upadhyaya, J. Maynard, P. Thompson, 1996, Journal of medical genetics.

Brief clinical report: the syndrome of Yunis and Varón--report of a further case.

H. Hughes, M. Partington, 1983, American journal of medical genetics.

Prenatal diagnosis and perinatal management of frontoethmoidal meningoencephalocele.

S. Weiner, A. Donnenfeld, H. Hughes, 1988, American journal of perinatology.

Smith-Lemli-Opitz syndromes: do they include the Pallister-Hall syndrome?

J. Burn, D. Donnai, H. Hughes, 1987, American journal of medical genetics.

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

K. Friend, M. Shaw, J. Gécz, 2007, American journal of human genetics.

CHARGE association: An update

S. Tomkins, H. Hughes, 1997 .

Craniotelencephalic dysplasia in sisters: further delineation of a possible syndrome.

L. Becker, D. Harwood-Nash, H. Hughes, 1983, American journal of medical genetics.

Costello syndrome: natural history and differential diagnosis of cutis laxa.

S. Davies, H. Hughes, S. Davies, 1994, Journal of medical genetics.

Monographs in Clinical Cytology. Volume 4. Aspiration Biopsy Cytology. Part 1. Cytology of Supradiaphragmatic Organs

H. Hughes, 1974 .

Virus Persistence

H. Hughes, CR Madeley, 1982 .

ASPIRATION CYTOLOGY IN BREAST CANCER

H. Hughes, L. Blumgart, H. Hughes, 1975, The Lancet.

Very superior intelligence in a child with Noonan syndrome.

J. K. Finegan, H. Hughes, 1988, American journal of medical genetics.

Maxillonasal dysplasia (Binder's syndrome)

O. Quarrell, H. Hughes, M. Koch, 1990, Journal of medical genetics.

Cliinical trial Three year trial of endoscopic cytology of the stomach and duodenum*

H. Hughes, Jennifer A YOUNGt, 2006 .

Three year trial of endoscopic cytology of the stomach and duodenum.

J. Young, H. Hughes, 1980, Gut.

Infant development following midtrimester amniocentesis

J. Finegan, H. Hughes, B. Quarrington, 1987 .

Midtrimester amniocentesis: obstetric outcome and neonatal neurobehavioral status.

H. Hughes, B. Quarrington, N. Rudd, 1984, American journal of obstetrics and gynecology.

Weaver syndrome.

T. Cole, H. Hughes, N. Dennis, 1992, Journal of medical genetics.

Original articles Sotos syndrome: astudy ofthediagnostic criteria andnatural history

H. Hughes, H. Hughes, 1994 .

Evaluation of NSD2 and NSD3 in overgrowth syndromes

N. Rahman, I. Temple, T. Cole, 2005, European Journal of Human Genetics.

Evaluation of endoscopic brush and biopsy touch smear cytology and biopsy histology in the diagnosis of carcinoma of the lower oesophagus and cardia.

F. Lee, J. Young, H. Hughes, 1980, Journal of clinical pathology.

The Cytopathology of Esophageal Carcinoma

H. Hughes, 1986 .

Bacterial flora in abnormalities of the female genital tract

H. Hughes, A. M. Gordon, G. Barr, 1966, Journal of clinical pathology.

Guides to Clinical Aspiration Biopsy. Prostate

H. Hughes, 1986 .

Postaxial acrofacial dysostosis (Miller) syndrome.

R. Winter, D. Donnai, H. Hughes, 1987, Journal of medical genetics.

Congenital contractural arachnodactyly with unilateral lower limb deficiency.

T. Cole, H. Hughes, T. Cole, 1992, American journal of medical genetics.

An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.

D. Cox, S. Philipps, H. Hughes, 1985, Journal of medical genetics.

EFFECTS OF VALPROIC ACID ON THE FETUS

A. Schinzel, J. Diliberti, J. Hanson, 1984, Pediatric Research.

Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy?

S. Davies, H. Hughes, H. Hughes, 1992, Clinical dysmorphology.

Endoscopic cytology and biopsy in the upper gastrointestinal tract.

F. Lee, H. Hughes, J. Mackenzie, 1978, Clinics in gastroenterology.

Management of women with abnormal cervical smears: supplement to terminology in gynaecological cytopathology.

D. Evans, C. Brown, E. Hudson, 1987, Journal of clinical pathology.

Managementofwomen withabnormal cervical smears:supplement toTerminology inGynaecological Cytopathology

D. Evans, C. Brown, E. Hudson, 1987 .

History of Clinical Cytology

H. Hughes, 1984 .

Two cases of coloboma associated with unbalanced translocations.

M. O'Keefe, H. Hughes, M. Goggin, 1993, The British journal of ophthalmology.

ASPIRATION CYTOLOGY AND OUTPATIENT EXCISION OF BREAST LUMPS

J. Primrose, S. Joffe, H. Hughes, 1979, The Lancet.