Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1990 • 3,134 citations

Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. II.

1966 • 2,592 citations

Human Genetics. Problems and Approaches.

1980 • 1,010 citations

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm

1976 • 980 citations

Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development.

1989 • 674 citations

NCHS growth curves for children birth-18 years. United States.

1977 • 568 citations

NCHS Growth Curves for Children Birth-18 Years

1977 • 535 citations

Localization of the X inactivation centre on the human X chromosome in Xq13

1991 • 380 citations

Turner syndrome: Spontaneous growth in 150 cases and review of the literature

1983 • 335 citations

Origin of Estrogen in Normal Men and in Women with Testicular Feminization*

1979 • 323 citations

EVIDENCE FOR THE EXISTENCE OF THE HUMAN "SUPER FEMALE"

1959 • 314 citations

Down syndrome—a disruption of homeostasis

1983 • 280 citations

Secular Growth Changes

1978 • 269 citations

CYTOGENETIC STUDIES IN PRIMARY AMENORRH$OElig;A

1961 • 267 citations

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

1989 • 256 citations

Analytic review: nature and origin of males with XX sex chromosomes.

1972 • 254 citations

Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome

1992 • 210 citations

Cytogenetics and infertility in man*

1975 • 197 citations

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

1984 • 188 citations

ABNORMALITIES INVOLVING THE X CHROMOSOME IN WOMEN

1960 • 181 citations

Growth in children with 45,Xo Turner's syndrome

1974 • 164 citations

Growth hormone secretory dynamics in Turner syndrome

1985 • 154 citations

CYTOGENETIC AND CLINICAL FINDINGS IN 48 PATIENTS WITH CONGENITALLY DEFECTIVE OR ABSENT OVARIES

1965 • 146 citations

Abnormalities of the Sex Chromosome Complement in Man

1964 • 144 citations

Pubertal growth in patients with androgen insensitivity: Indirect evidence for the importance of estrogens in pubertal growth of girls

1986 • 143 citations

Males with an XYY sex chromosome complement.

1968 • 143 citations

Small deletions of the short arm of the Y chromosome in 46,XY females.

1986 • 141 citations

A synopsis of the human Y chromosome

1980 • 135 citations

X inactivation in man: a woman with t(Xq--;12q+).

1973 • 131 citations

The nature and origin of X chromosome aberrations in Turner's syndrome

1964 • 126 citations

Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination

1990 • 115 citations

Somatomedin-C Levels in Children and Adolescents with Gonadal Dysgenesis: Differences from Age-Matched Normal Females and Effect of Chronic Estrogen Replacement Therapy*

1985 • 115 citations

The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis

1990 • 113 citations

The cell surface antigen locus, MIC2X, escapes X-inactivation.

1984 • 112 citations

An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness

1987 • 112 citations

A deletion map of the human Yq11 region: Implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis

1991 • 111 citations

Cytologic evidence for three human X-chromosomal segments escaping inactivation

1983 • 108 citations

Exchange of terminal portions of X- and Y-chromosomal short arms in human XX males

1987 • 107 citations

47, XXX: What Is the Prognosis?

1988 • 102 citations

Heteromorphic X chromosomes in 46,XX males: Evidence for the involvement of X-Y interchange

1979 • 102 citations

CRIMINAL PATIENTS WITH XYY SEX-CHOMOSOME COMPLEMENT

1966 • 101 citations

Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations.

1975 • 99 citations

Adult height in Turner syndrome with and without androgen therapy

1984 • 97 citations

Chromosome studies on men in a Maximum Security Hospital

1968 • 96 citations

Population Differences in Growth: Environmental and Genetic Factors

1979 • 93 citations

Replication pattern of the X chromosomes in three X/autosomal translocations

1977 • 90 citations

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1977 • 88 citations

Clinical and Cytogenetical Studies in Female Gonadal Dysgenesis and Their Bearing on the Cause of Turner’s Syndrome

1964 • 88 citations

Structural differences in reciprocal translocations

1979 • 83 citations

Klinefelter's syndrome in adolescence.

1982 • 81 citations

Pregnancy and the Turner syndrome.

1978 • 78 citations

Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.

1979 • 77 citations

The Triple-X Syndrome

1961 • 76 citations

Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes

1987 • 76 citations

Mammalian X-chromosome inactivation and the XIST gene

1992 • 75 citations

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion

1989 • 75 citations

Sterile Male with the Chromosome Constitution 46 XX

1964 • 70 citations

GROWTH IN TURNER'S SYNDROME: SPONTANEOUS AND FLUOXYMESTERONE STIMULATED

1979 • 70 citations

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.

1989 • 68 citations

Tooth sizes in two males with deletions of the long arm of the Y‐chromosome

1981 • 68 citations

Deleted Yq in the sterile son of a man with a satellited Y chromosome (Yqs).

1989 • 67 citations

Translocation(X;Y)(p22.33;p11.2) in XX males: Etiology of male phenotype

1982 • 65 citations

An inhertited X‐autosome translocation in man

1971 • 64 citations

Clinical and cytogenetic aspects of X‐chromosome deletions

1982 • 63 citations

Position of the human X inactivation center on Xq

1979 • 62 citations

Premature menopause due to a small deletion in the long arm of the X chromosome: A report of three cases and a review

1982 • 59 citations

Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

1992 • 58 citations

Growth and body proportions in 54 boys and men with Klinefelter's syndrome.

1974 • 58 citations

FERTILITY AND OLIGOPHRENIA IN AN APPARENT TRIPLO-X FEMALE

1960 • 57 citations

Structural anomalies of the X chromosome: personal observation and review of non‐mosaic cases

1982 • 57 citations

THE LYON-BEUTLER HYPOTHESIS AND ISOCHROMOSOME X PATIENTS WITH THE TURNER SYNDROME

1963 • 56 citations

TURNER-SYNDROM MIT VOLL AUSGEBILDETEN SEKUNDÄREN GESCHLECHTSMERKMALEN UND FERTILITÄT

1960 • 55 citations

Turner syndrome resulting from partial deletion of Y chromosome short arm: Localization of male determinants

1984 • 54 citations

45, Xo Turner's Syndrome without Evidence of Mosaicism in a Patient with two Pregnancies

1976 • 52 citations

The phenotype of 45,X females: an anthropometric quantification

1984 • 52 citations

Developmental and other pathologic changes in syndromes caused by chromosome abnormalities.

1982 • 50 citations

Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s).

1992 • 49 citations

MEIOSIS IN XYY MEN

1970 • 49 citations

Mongolism and sex: a common problem of cell proliferation?

1972 • 46 citations

X long-arm deletions. A review of non-mosaic cases studied with banding techniques

1984 • 45 citations

Ultimate Height in Chromosomal Gonadal Dysgenesis Without Androgen Therapy

1974 • 45 citations

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

1981 • 44 citations

Evidence that the Xg Blood Group Genes are on the Short Arm of the X chromosome

1963 • 44 citations

Further information on the identity of 47,XYY males.

1968 • 44 citations

XY SPERMATOCYTES IN AN XYY MALE

1970 • 44 citations

The Genetics of Size and Shape in Children and Adults

1986 • 44 citations

Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X; 46,X,del(X)(p11); 46,X,del(X)(q13); and 46,X,del(X)(q22) fibroblasts

1981 • 43 citations

Evidence that the Xg Locus is Inactivated in Structurally Abnormal X Chromosomes

1970 • 43 citations

Normal male development with Y chromosome long arm deletion (Yq-).

1972 • 43 citations

Klinefelter's syndrome in Sardinia

1986 • 43 citations

Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses

1970 • 43 citations

Fertility in patients with X chromosome deletions

1982 • 42 citations

Chromosomal localisation of a pseudoautosomal growth gene(s).

1992 • 42 citations

Trisomy of a Large Chromosome

1960 • 41 citations

Chromosomes of Male Patients in a Security Prison

1968 • 40 citations

Normal meiosis in two 47,XYY men

1976 • 40 citations

Fluorescence and Autoradiographic Studies in Patients with Turner's Syndrome and 46,XXp-- and 46,XXq-- Karyotypes

1973 • 40 citations

Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution

1972 • 39 citations

Yq deletion and failure of spermatogenesis.

1988 • 39 citations

Psychopathology and Testis Histology in a Patient with the XYY syndrome

1966 • 36 citations

Familial Turner Syndrome

1978 • 35 citations

Androgens, Estrogens, and the Ultimate Height in XO Gonadal Dysgenesis

1977 • 35 citations

Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund

1976 • 35 citations

Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes

1978 • 34 citations

Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

1991 • 34 citations

[Turner syndrome with fully developed secondary sex characteristics and fertility].

1960 • 34 citations

The phenotypic effects of small, distal Xq deletions

1984 • 33 citations

Cytogenetic and Clinical Study on 100 Cases of Primary Amenorrhoea

1973 • 33 citations

Spermatogenesis in an infertile XYY man

1976 • 33 citations

X‐chromosome polysomy in the female: personal experience and review of the literature

1983 • 32 citations

X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes

1984 • 32 citations

A chromosome survey of a hospital for the mentally subnormal Part 1: Sex chromosome abnormalities

1972 • 32 citations

The various phenotypes in Xp deletion. Observations in eleven patients

1981 • 29 citations

Short arm deletion of an X chromosome, 46,XXp-

1976 • 29 citations

Menstrual function in Turner's syndrome.

1976 • 29 citations

Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea

1977 • 29 citations

A CLINICAL AND CYTOGENETICAL STUDY OF THREE PATIENTS WITH MALE PHENOTYPE AND APPARENT XX SEX CHROMOSOME CONSTITUTION

1966 • 29 citations

TWO APPARENTLY NORMAL TRIPLE-X FEMALES

1963 • 28 citations

Deletion of the long arms of the Y chromosome with normal male development and intelligence

1974 • 28 citations

MEIOSIS AND TESTICULAR HISTOLOGY IN XYY MALES

1970 • 28 citations

45,X Lymphocyte karyotype in a fertile woman

1973 • 28 citations

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY

1992 • 27 citations

Y-Chromosomal Genes in a Phenotypic Male With a 46XX Karyotype

1976 • 27 citations

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

1971 • 27 citations

A 46,XYq- Male With Aspermia

1973 • 27 citations

Reduced fertility in women with X chromosome abnormality

1984 • 27 citations

X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

1974 • 26 citations

Lack of evidence that inactivation of the mouse X-chromosome is incomplete

1966 • 26 citations

Two conceptions in a 45,X woman

1980 • 25 citations

MEDULLARY GONADAL DYSGENESIS (CHROMATIN-POSITIVE KLINEFELTER'S SYNDROME).

1959 • 25 citations

Gonadotropin Dynamics in XX Males*

1981 • 25 citations

Interstitial deletion involving most of Yq

1990 • 25 citations

Tentative Evidence of Y-linked Statural Gene(s)

1985 • 24 citations

Mental retardation in association with a balanced X‐autosome translocation and random inactivation of the X chromosomes

1980 • 23 citations

Testicular function in XYY men.

1975 • 23 citations

Del(X) (q26) in a phenotypically normal woman and her daughter who also has trisomy 21

1983 • 21 citations

A possible association of Y chromosome heterochromatin with stature

1981 • 21 citations

Body height and dental development in patients with Turner's syndrome.

1974 • 21 citations

Increased Q fluorescence of an inactive Xq— chromosome in man

1974 • 21 citations

A NORMAL XYY MAN

1969 • 20 citations

Translocation X sur autosome et replication tardive

1975 • 19 citations

Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts

1988 • 19 citations

A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization

1989 • 19 citations

Two further males with female karyotypes

1971 • 19 citations

Two cases of primary amenorrhea with deletion of the long arm of the X chromosome (46, XXq−)

1968 • 18 citations

A deletion of heterochromatin only of the Y chromosome in an azoospermic male

1983 • 17 citations

Final Height in Estrogen-Treated Patients with Turner Syndrome

1985 • 17 citations

Yq deletion with short stature, abnormal male development, and schizoid character disorder.

1983 • 17 citations

X;14 translocation: An exception to the critical region hypothesis on the human X‐chromosome

1985 • 16 citations

Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis

1988 • 16 citations

A CLINICAL AND CYTOGENETICAL STUDY OF XX MALE

2009 • 16 citations

A reciprocal translocation (X;11) in a female with gonadal dysgenesis

1979 • 15 citations

Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea

1979 • 15 citations

BODY PROPORTIONS AND ANDROGENICITY IN RELATION TO PLASMA TESTOSTERONE LEVELS IN KLINEFELTER'S SYNDROME

1974 • 14 citations

Testicular feminization: a study of two cases, one with a seminoma.

1968 • 14 citations

Follow-up on a human X-autosome translocation first studied in 1963 and 1964.

1978 • 14 citations

Turner syndrome with rare karyotypes

1978 • 13 citations

Chromosome studies on male patients at a mental subnormality hospital

1971 • 13 citations

Association of the X chromosomal region q11→22 and Klinefelter syndrome

1981 • 12 citations

Partial short arm deletion of the X chromosome 46,X,del(X)(qter?p21:)

1980 • 12 citations

[Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)].

1975 • 12 citations

Morphologisch abnorme X-Chromosomen

1967 • 11 citations

[Two observations of men 46,XX].

1967 • 11 citations

Weiblicher Chromosomensatz bei einem Mann ohne Hodentubuli

1966 • 11 citations

C and Q bands in long arm of Y chromosomes; are they identical?

1976 • 11 citations

X LONG-ARM DELETION WITH FEATURES OF TURNER'S SYNDROME

1974 • 11 citations

H‐Y antigen expression in patients with X‐autosomal translocations and gonadal dysgenesis

1982 • 10 citations

Effect of balanced X/autosome translocations on sexual and physical development

1985 • 9 citations

GONADAL DYSGENESIS AND X CHROMOSOME DELETION. CASE REPORTS

1981 • 9 citations

Testicular Feminization: The Clinical Features, Endocrine Function and Gonadal Pathology in Six Patients

1972 • 9 citations

An Adult Phenotypic Male with a 46, XX Chromosome Complement

1970 • 9 citations

Frequency of XYY males in Wisconsin State correctional institutions

1980 • 8 citations

Testicular feminization syndrome

1970 • 8 citations

X chromosome replication patterns in a case of X;9 balanced translocation.

1983 • 8 citations

Translocation X;9(q24;q34) in a girl with ovary dysfunction

1981 • 8 citations

X long arm deletion with oligomenorrhoea.

1982 • 8 citations

X short arm deletion in a female subject with spontaneous sexual development

1979 • 8 citations

Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature

1984 • 8 citations

Clinical and cytogenetic variations of gonadal dysgenesis in 3 patients

1970 • 7 citations

Yq deletion (q11.21) in a H‐Y⁺ azoospermic male

1985 • 7 citations

Effect of sex chromosome aneuploidy on growth of human skin fibroblasts in cell culture

1989 • 6 citations

[A 46,XX male. Germinal aplasia].

1969 • 5 citations

[Males with karyotype 46 XX. 2 new cases].

1969 • 5 citations

[X short arm deletion and Turner syndrome. A new case 46, X, del (X) (p11) (author's transl)].

1981 • 4 citations

IMMUNOREACTIVE SOMATOMEDIN B IN ACROMEGALY AND IN TURNER'S SYNDROME

1979 • 4 citations

The XYY syndrome in young Greek detainees.

1970 • 3 citations

Screening for fra(x) mutation and Klinefelter syndrome in mental institutions

1991 • 3 citations

The XX male syndrome ‐A case report

1976 • 3 citations

Testicular feminizing syndrome and “pure” gonadal dysgenesis

1970 • 3 citations

Primary amenorrhea and short arm deletion of the X chromosome, 46,X,del(Xp). Report of two cases.

1982 • 3 citations

[Cytogenetic background of male infertility].

1982 • 3 citations

XYY male.

1967 • 3 citations