A. Hunter

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The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases

R. Stevenson, J. Graham, G. Turner, 2014, American journal of medical genetics. Part A.

The elements of morphology: Ear—An initial approach for the incisura

A. Hunter, 2010, American journal of medical genetics. Part A.

Response to letter from Professor Merlob and Dr. Klinger “Elements of Morphology: Standard Terminology for the Ear—Additional Features”

R. Hennekam, A. Hunter, 2009 .

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

P. Genton, Ying-Hui Fu, A. Hunter, 2012, Neurology.

The external ear: More attention to detail may aid syndrome diagnosis and contribute answers to embryological questions

A. Hunter, T. Yotsuyanagi, Takatoshi Yotsuyanagi, 2005 .

Considering the Embryopathogenesis of VACTERL Association

R. Stevenson, A. Hunter, 2013, Molecular Syndromology.

Thecorrelation ofageofonset withCTG trinucleotide repeat amplification inmyotonic dystrophy

A. Hunter, C. Tsilfidis, G. Mettler, 1992 .

Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly.

A. Hunter, N. Rudd, 1977, Teratology.

Some psychosocial aspects of nonlethal chondrodysplasias: IV. Dyadic scale of marital adjustment.

A. Hunter, 1998, American journal of medical genetics.

Some psychosocial aspects of nonlethal chondrodysplasias: VI. Assessment of family interaction using the FACES II Questionnaire.

A. Hunter, 1998, American journal of medical genetics.

Some psychosocial aspects of nonlethal chondrodysplasias: V. Assessment of personal social support using the Personal Resource Questionnaire.

A. Hunter, 1998, American journal of medical genetics.

Callosal Agenesis: A Natural Split Brain?

A. Hunter, 1995 .

VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.

A. Hunter, B. Clifford, H. Wang, 1993, American journal of medical genetics.

Gastroschisis: Clinical presentation and associations

R. Stevenson, A. Hunter, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

Outcome of the routine assessment of patients with mental retardation in a genetics clinic.

A. Hunter, 2000, American journal of medical genetics.

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3

I. MacDonald, A. Hunter, M. Tenniswood, 1987, Human Genetics.

Beyond Gómez‐López‐Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis

I. Glass, J. Allanson, K. Millen, 2012, American journal of medical genetics. Part A.

Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population.

A. Hunter, R. Korneluk, A. Mackenzie, 1989, American journal of human genetics.

VACTERL with hydrocephalus: further delineation of the syndrome(s)

A. Hunter, P. Kaplan, J. Evans, 1989, American journal of medical genetics.

Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.

M. Somerville, L. Surh, A. Hunter, 1997, American journal of medical genetics.

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour.

A. Hunter, A. Kidd, R. Corbett, 2011, European journal of medical genetics.

Granular Vulvovaginitis: A Review

A. Hunter, B. W. Henderson, A. H. Dardiri, 1958 .

An epidemiological study of facial clefting in Manitoba.

A. Hunter, J. Welch, 1980, Journal of medical genetics.

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome

Ying-Hui Fu, P. Berquin, A. Hunter, 2010, Epileptic disorders : international epilepsy journal with videotape.

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

R. Stevenson, C. Schwartz, M. Lyons, 2008, Journal of Medical Genetics.

Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations

A. Hunter, M. Carter, G. Graham, 2009, American journal of medical genetics. Part A.

Is there a fetal gasoline syndrome?

A. Hunter, J. Evans, D. Thompson, 1979, Teratology.

Medical complications of achondroplasia: a multicentre patient review.

D. Sillence, A. Hunter, A. Bankier, 1998, Journal of medical genetics.

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

A. Hunter, R. Haslam, R. Lowry, 1979, American journal of medical genetics.

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

A. Hunter, M. Nezarati, L. Velsher, 2010, American journal of medical genetics. Part A.

Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.

I. MacDonald, A. Hunter, S. Parnes, 1990, American journal of medical genetics.

Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?

A. Hunter, Alasdair G W Hunter, 2006, American journal of medical genetics. Part A.

Elements of morphology: Standard terminology for the ear

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

Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

A. Hunter, A G Hunter, N L Rudd, 1976, Teratology.

Human equivalent of mouse disorganization: Has the case been made?

A. Hunter, 2011, American journal of medical genetics. Part A.

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

L. Surh, A. Hunter, R. Korneluk, 1992, Journal of medical genetics.

Coffin‐Lowry Syndrome

A. Hunter, 2005 .

Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes.

A. Hunter, 2002, American journal of medical genetics.

Familial pyloric atresia associated with epidermolysis bullosa.

A. Hunter, R. Postuma, W. de Groot, 1978, The Journal of pediatrics.

Detection at amniocentesis of a maternally inherited X; Y translocation

A. Hunter, M. Speevak, B. Clifford, 1985, Clinical genetics.

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

D. Bulman, A. Hunter, A. Baig, 2002, Journal of medical genetics.

Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems.

R. Pauli, A. Hunter, C. Scott, 1996, American journal of medical genetics.

A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations.

J. Hamerton, A. Hunter, J. Evans, 1978, Cytogenetics and cell genetics.

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy.

A. Hunter, F. Fraser, N. Rudd, 1977, Journal of medical genetics.

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

R. Stevenson, A. Hunter, L. Seaver, 2011, American journal of medical genetics. Part A.

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

A. Hunter, D. Cozma, M. Tsokos, 2003, Human molecular genetics.

Cytogenetic findings in Roberts-SC phocomelia syndrome(s).

A. Hunter, D. Tomkins, M. Roberts, 1979, American journal of medical genetics.

Implications of malformations not due to amniotic bands in the amniotic band sequence.

J. Opitz, A. Hunter, B. Carpenter, 1986, American journal of medical genetics.

Atelosteogenesis I and boomerang dysplasia: a question of nosology

A. Hunter, B. Carpenter, 1991, Clinical genetics.

Neural tube defects in Eastern Ontario and Western Quebec: demography and family data.

A. Hunter, Alasdair G. W. Hunter, 1984, American journal of medical genetics.

The popliteal pterygium syndrome: report of a new family and review of the literature.

A. Hunter, 1990, American journal of medical genetics.

Non‐lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age

A. Hunter, H. Scott, Brigit Bédard, 1999, Prenatal diagnosis.

Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis.

A. Hunter, Hungshu Wang, H. Wang, 1993, American journal of medical genetics.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

False‐positive and false‐negative findings on chorionic villus sampling

A. Hunter, 1987, Prenatal diagnosis.

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister‐Killian syndrome

A. Hunter, B. Clifford, D. Cox, 1985, Clinical genetics.

Mosaic tetrasomy 21 in a liveborn male infant

S. MacMurray, A. Hunter, M. Speevak, 1982, Clinical genetics.

The Coffin‐Lowry syndrome. Experience from four centres

M. Partington, A. Hunter, J. Evans, 1982, Clinical genetics.

X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations

S. Holden, R. McGowan, A. Hunter, 2011, American journal of medical genetics. Part A.

Horseshoe lung and facio‐auriculo‐vertebral sequence: A previously unreported association

A. Hunter, J. Reisman, J. Lougheed, 2006, Pediatric pulmonology.

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.

I. MacDonald, A. Hunter, R. Korneluk, 1993, American journal of medical genetics.

T‐cell acute lymphoblastic leukemia in association with Börjeson–Forssman–Lehmann syndrome due to a mutation in PHF6

A. Hunter, U. Kontny, C. Kratz, 2010, Pediatric blood & cancer.

TO JMG A novel PHF 6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

A. Hunter, G. Graham, D. Picketts, 2004 .

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

D. Schlessinger, J. Tolmie, T. Grossman, 1996, American journal of medical genetics.

Deletion and uniparental disomy involving the same maternal chromosome 15.

L. Surh, A. Hunter, H. Wang, 1994, The New England journal of medicine.

Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time.

J. Allanson, A. Hunter, 1994, American journal of medical genetics.

Photographic documentation of syndrome diagnosis.

R. Stevenson, J. Allanson, R. Winter, 1997, American journal of medical genetics.

Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

J. Allanson, A. Hunter, A. Mackenzie, 1992, American journal of medical genetics.

A Study of Institutionalized Mentally Retarded Patients in Manitoba. I: Classification and Preventability

A. Hunter, Jane A. Evansx, Diane R. Thompsonx, 1980, Developmental medicine and child neurology.

Chapter 23. Down Syndrome

A. Hunter, 2010 .

Inheritance of branchial sinuses and preauricular fistulae.

A. Hunter, 1974, Teratology.

A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations

A. Hunter, 2000, Clinical genetics.

A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus.

Y. Nakamura, Y. Nakamura, A. Hunter, 1989, Genomics.

Mental retardation and osteosclerosis.

A. Hunter, R. Macpherson, 1978, American journal of medical genetics.

Prenatal diagnosis of Turner's syndrome by ultrasonography.

A. Hunter, H. Muggah, M. Gillieson, 1982, Canadian Medical Association journal.

Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome.

A. Hunter, J. Evans, D. Thompson, 1982, American journal of medical genetics.

Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation.

I. MacDonald, A. Hunter, B. Clifford, 1984, Ophthalmic paediatrics and genetics.

Interstitial deletion of the long arm of chromosome 10.

A. Hunter, M. Ray, K. Josifek, 1980, Annales de genetique.

A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome

A. Hunter, G. Graham, D. Picketts, 2004, Journal of Medical Genetics.

Mosaic r(13) in an infant with aprosencephaly.

A. Hunter, M. Speevak, G. Tawagi, 1993, American journal of medical genetics.

Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33

A. Hunter, I. Uchida, D. Tomkins, 1982, Clinical genetics.

Detailed assessment of the ear in Cornelia de Lange syndrome: Comparison with a control sample using the new dysmorphology guidelines

I. Krantz, M. Deardorff, A. Hunter, 2009, American journal of medical genetics. Part A.

The genetics of congenital malformations.

A. Hunter, 1983, Clinical neurosurgery.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

E. Zackai, J. Allanson, F. Quintero-Rivera, 2016, Human mutation.

A novel aberrant splice site mutation in the APC gene

A. Hunter, B. Bapat, G. Charames, 2002, Journal of medical genetics.

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers.

A. Hunter, J. Haworth, J. Herrmann, 1978, American journal of medical genetics.

Phenotypic correlations in patients with ring chromosome 22

A. Hunter, M. Ray, H. Wang, 1977, Clinical genetics.

Osteofibrous dysplasia: two affected male sibs and an unrelated girl with bilateral involvement.

A. Hunter, J. Jarvis, 2002, American journal of medical genetics.

Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?

A. Hunter, C. Jimenez, F. G. Tawagi, 1991, American journal of medical genetics.

Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.

J. Allanson, A. Hunter, G. Mettler, 1992, American journal of medical genetics.

Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission.

A. Hunter, R. Korneluk, M. Mahadevan, 1993, Science.

Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings

A. Hunter, R. Deckelbaum, S. Rothman, 1974, Clinical genetics.

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

P. Byers, A. Hunter, R. Wenstrup, 1986, Human Genetics.

Midtrimester genetic amniocentesis in eastern Ontario: a review from 1970 to 1985.

A. Hunter, M. Speevak, D. Thompson, 1987, Journal of medical genetics.

Response to Bader et al. letter addressing “The External Ear: More Attention to Detail May Aid Syndrome Diagnosis and Contribute Answers to Embryological Questions”

A. Hunter, T. Yotsuyanagi, Alasdair G W Hunter, 2006, American journal of medical genetics. Part A.

Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs.

A. Hunter, 2002, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

Some psychosocial aspects of nonlethal chondrodysplasias: II. Depression and anxiety.

A. Hunter, 1998, American journal of medical genetics.

Micromelia, polysyndactyly, multiple malformations, and fragile bones in a stillborn child.

A. Hunter, B. Carpenter, 1982, Journal of medical genetics.

CHORIONIC VILLUS SAMPLING FOLLOWED BY GENETIC AMNIOCENTESIS AND SEPTIC SHOCK

A. Hunter, H. Muggah, M. D’Alton, 1987, The Lancet.

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database

Marni J. Falk, Gerard C. P. Schaafsma, R. Kumar, 2012, Human mutation.

The genetics of and associated clinical findings in humero‐radial synostosis

A. Hunter, D. Cox, N. Rudd, 1976, Clinical genetics.

AvaII RFLP at the human apolipoprotein CII (APO CII) gene locus.

A. Hunter, R. Korneluk, F. Baralle, 1987, Nucleic acids research.

Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics.

W. Meschino, A. Hunter, N. Sharpe, 2001, American journal of medical genetics.

Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8).

A. Hunter, M. Ray, 1980, Annales de genetique.

COFS syndrome revisited.

A. Hunter, J. Evans, S. Peña, 1978, Birth defects original article series.

Assessment of the early risks of chorionic villus sampling.

A. Hunter, H. Muggah, B. Ivey, 1986, CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne.

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

M. Warman, L. Racacho, D. Bulman, 2002, Human Genetics.

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

D. Bulman, A. Hunter, C. Armour, 2000, Journal of medical genetics.

Is geroderma osteodysplastica underdiagnosed?

A. Hunter, 1988, Journal of medical genetics.

Down syndrome and recent demographic trends in Manitoba.

J. Hamerton, A. Hunter, J. Evans, 1978, Journal of medical genetics.

Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.

A. Hunter, H. Heick, W. Poznanski, 1981, Journal of medical genetics.

Cebocephaly in an infant with trisomy 18.

A. Hunter, C. Langston, M. Ray, 1977, Journal of medical genetics.

Absence of the fragile X in a group of patients with idiopathic mental retardation.

J. MacDonald, A. Hunter, J. Evans, 1983, Journal of medical genetics.

Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.

I. MacDonald, A. Hunter, C. Jimenez, 1987, American journal of medical genetics.

Growth and development in thanatophoric dysplasia.

I. MacDonald, S. MacMurray, A. Hunter, 1989, American journal of medical genetics.

Trigonocephaly and associated minor anomalies in mother and son.

A. Hunter, N. Rudd, H. Hoffmann, 1976, Journal of medical genetics.

Why patients do not attend for their appointments at a genetics clinic

A. Hunter, Y. Korneluk, M. Cappelli, 2000, Journal of medical genetics.

Some psychosocial aspects of nonlethal chondrodysplasias: I. Assessment using a Life-Styles Questionnaire.

A. Hunter, 1998, American journal of medical genetics.

Some psychosocial aspects of nonlethal chondrodysplasias: III. Self-esteem in children and adults.

A. Hunter, 1998, American journal of medical genetics.

Geroderma osteodysplastica

A. Hunter, M. Reed, J. Martsolf, 1978, Human Genetics.

Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son.

A. Hunter, W. Feldman, J. Miller, 1986, American journal of medical genetics.

Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation.

D. Rimoin, A. Hunter, R. Lachman, 1985, American journal of medical genetics.

Standard weight for height curves in achondroplasia.

A. Hunter, J. Hecht, C. Scott, 1996, American journal of medical genetics.

Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis

A. Hunter, B. Ivey, D. Cox, 1987, Clinical genetics.

Perceptions of the outcome of orthopedic surgery in patients with chondrodysplasias

A. Hunter, 1999, Clinical genetics.

RAISED AMNIOTIC-FLUID ALPHA-FETOPROTEIN IN TURNER SYNDROME

A. Hunter, T. Baskett, J. Hammerton, 1976, The Lancet.

Craniofacial anthropometric analysis in several types of chondrodysplasia.

A. Hunter, 1996, American journal of medical genetics.

Dominantly‐inherited lop ears

A. Hunter, 2008, American journal of medical genetics. Part A.

46,XX/46,XY chromosome complement in amniotic fluid cell culture followed by the birth of a normal female child

A. Hunter, D. Tomkins, Kathy Brierley, 1982, Prenatal Diagnosis.

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

A. Hunter, Hongshun Wang, D. Thompson, 1988, Prenatal diagnosis.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

A supernumerary “G” like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl

A. Hunter, Hungshu Wang, 1979, Clinical genetics.

A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve.

A. Hunter, K. Chan, K. Chan, 1997, Journal of the American College of Cardiology.

Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases

M. W. Thompson, A. Hunter, 1976, Human Genetics.

Interstitial deletion of the long arm of chromosome 10.

A. Hunter, M. Ray, K. Josifek, 1980, Annales de genetique.

Coffin-Lowry Syndrome

A. Hunter, C. Schwartz, 2008 .

Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?

R. Stevenson, A. Hunter, L. Seaver, 2011, American journal of medical genetics. Part A.

Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).

A. Hunter, P. Kaplan, A. Hunter, 1989, American journal of medical genetics.

Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes.

A. Hunter, 2002, American journal of medical genetics.

A boy with developmental delay, malformations, and evidence of a connective tissue disorder—possibly a new type of cutis laxa

A. Hunter, L. Armstrong, C. Jimenez, 2003, American journal of medical genetics. Part A.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

P. Genton, Ying-Hui Fu, A. Hunter, 2012, Neurology.

Is multicenter collaborative research in clinical genetics dead and, if so, what killed it?

A. Hunter, 2005, American journal of medical genetics. Part A.